Teaching-friendly stories you can drop into a lecture, seminar, or course module. Suitable for undergraduate and postgraduate genetics teaching.
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A late-stage trial of mRNA-4157/V940 combined with pembrolizumab met its primary endpoint in advanced melanoma, according to data reported by Moderna and Merck.
Regeneron's antibody treatment for fibrodysplasia ossificans progressiva — an ultra-rare genetic disorder in which bone forms progressively in soft tissue — has received FDA approval under the brand name Pasatru.
A preprint reports two novel deep-intronic variants in PCDH15 that disrupt splicing in Usher syndrome patients who had previously received no genetic diagnosis, and demonstrates antisense oligonucleotide rescue in a minigene model.
NHS England begins distributing home HPV self-sampling kits to women aged 30–65 who have not responded to cervical screening invitations, aiming to increase uptake.
The US Food and Drug Administration has again paused a Regenxbio clinical trial for Hunter syndrome following new safety signals, underscoring ongoing challenges in adeno-associated virus gene therapy development.
Specialists in gene editing have questioned the study design and technical choices made by Huidagene Therapeutics in a Duchenne muscular dystrophy trial in which a patient died.
A machine-learning analysis of around 500,000 DNA sequences has characterised the initiator element — a core promoter signal — at unprecedented scale, offering a route to predicting the impact of non-coding mutations.
A preprint demonstrates that the minor spliceosome snRNA U4atac controls cilium biogenesis in the developing zebrafish brain by regulating splicing of minor introns in two ciliary genes, connecting RNU4ATAC-associated syndromes to ciliopathy.
A random forest classifier integrating protein structural context, evolutionary conservation, and gene constraint offers calibrated PP3/BP4 thresholds for variant classification.
A PHG Foundation analysis sets out why the pathway for UK participation in the EU's cross-border health data framework is still legally and politically unclear.
A preprint describes an extended VAMP-seq approach that systematically measures the protein stability consequences of amino acid substitutions in zeta-globin, with a computational framework to predict effects across related paralogues.
New work in yeast shows that synapsis between non-homologous chromosome segments is not simply an error but reflects a second, separately regulated initiation pathway that also operates during normal early meiosis.
A bioRxiv preprint describes a collection of characterised human cell lines bearing NF1 variants — including variants of uncertain significance — made freely available to the research community.
A preprint from bioRxiv describes how the ubiquitin-proteasome system contributes to cohesin removal during meiosis II through parallel pathways, distinct from the established separase-cleavage route.
Research shows that haploinsufficiency of the transcription factor TBX5 unravels the three-dimensional chromatin architecture required for normal cardiac development, offering a mechanism for variable expressivity in congenital heart disease.
The US Food and Drug Administration has licensed mFluSIva, Moderna's messenger RNA flu shot, marking the first regulatory approval of mRNA technology for influenza.
A PLOS Genetics paper characterises how microhomology-mediated break-induced replication acting in cis generates tandem gene amplicons at yeast telomeres, with implications for understanding amplification in cancer.
Researchers report that RNA dicing — a process that generates stable, translation-competent RNA fragments from mature transcripts — acts as a transient programme reshaping the functional transcriptome as macrophages change cell state.
Scientists in Japan have demonstrated that silver nanoparticles can cleave DNA to produce longer cohesive ends, substantially improving the efficiency with which DNA fragments join during assembly.
Researchers have found evidence that maternal-age effects on offspring may be mediated by heritable alterations in gene activity rather than irreversible DNA damage, with potential implications for understanding multigenerational inheritance.
A bioRxiv preprint evaluates logistic regression, random forest, gradient boosting, CNN, and ensemble approaches on a class-imbalanced GUIDE-seq dataset, exposing methodological pitfalls relevant to therapeutic genome editing safety.
A bioRxiv preprint describes how the Elston–Stewart algorithm can be adapted to calculate exact pedigree-based match probabilities for Y-chromosomal STR profiles, addressing a longstanding challenge in forensic genetics.
A bioRxiv preprint examines how heterozygosity or homozygosity for the MYBPC3 p.A31P variant shapes the severity and phenotype of hypertrophic cardiomyopathy in Maine Coon cats, reinforcing their value as a large-animal model for the human condition.
Researchers describe a computational strategy for inferring how protein variants behave under different genetic and environmental conditions, beyond the specific context in which they were experimentally measured.
An FDA advisory committee is scheduled to weigh the evidence for Grail's Galleri blood-based multi-cancer detection test, a decision with broad implications for the emerging field of cell-free DNA screening.
A bioRxiv preprint argues that existing variant classification frameworks assign a single verdict regardless of inheritance state, and uses lipoprotein lipase variants as a proof-of-concept for context-aware interpretation.
Researchers introduce a physics-informed framework that treats variability in DNA methylation patterns as a thermodynamic signal of ageing, producing an interpretable age predictor competitive with established epigenetic clocks.
A new preprint using genetic analysis in C. elegans embryos demonstrates that the endonuclease NUC-1 functions exclusively in the cells that engulf dying neighbours, not within apoptotic cells themselves.
Research published in PLOS Genetics demonstrates that genes on the lagging strand of bacterial DNA replication tend to be shorter, reflecting selective pressure imposed by collisions between replication and transcription machinery.
A new PHG Foundation commentary examines how recent sequencing technology advances are reshaping expectations of what constitutes adequate genomic testing.
A systematic reporter study from bioRxiv identifies intrinsic sequence-level barriers that prevent most translated upstream open reading frames from yielding detectable proteins, helping resolve a long-standing discrepancy in ribosome-profiling data.
A bioRxiv preprint reports that hyperactive proteolysis in the gut, rather than a cell-autonomous neuronal defect, underlies the neuromuscular phenotypes caused by loss of the SMA gene smn-1 in nematodes.
A PLOS Genetics study shows that the Hippo tumour-suppressor pathway — best known for controlling tissue growth — also governs melanin production in fruit flies by modulating dopamine biosynthesis enzymes.
Skylark Bio has initiated a gene therapy trial targeting GJB2 mutations — one of the most common genetic causes of congenital deafness — as multiple companies pursue different mutation-specific approaches.
A bioRxiv preprint presents genome-wide data from nine newly reported individuals spanning the Epipaleolithic and Mesolithic Balkans, revealing a pan-European genetic legacy from the region's Last Glacial Maximum refugium.
Researchers present admixslug, a method for analysing low-quality archaic human genomes under high modern-human contamination, and apply it to the Teshik-Tash 1 child — the south-easternmost known Neandertal.
A preprint using nearly 75,000 flies from a sequenced wild-derived reference panel identifies significant genetic variation, sexual dimorphism, and gene-by-sex interactions for cocaine-related behaviours relevant to addiction research.
Aurora Therapeutics, which aimed to industrialise bespoke CRISPR gene-editing treatments modelled on the Baby KJ case, has abandoned its programme, citing regulatory demands that a small company could not meet.
A preprint analysing genome-wide data from the Arras Culture of Middle Iron Age northeast England, including 390 individuals from Wetwang, finds evidence for matrilineal descent and recurrent unions between dominant matrilines.
A preprint using Israeli registry data provides the first country-scale empirical estimate of how often forensic investigative genetic genealogy can link an unknown individual to a relative in a consumer genomic database.
A delayed report of a second fatality in an investigator-led gene-editing study in China has intensified international debate about oversight standards and trial transparency.
A preprint combining PacBio and Nanopore long-read sequencing reports that sequence variation within telomeric repeats determines allele-specific telomere length, set at birth and maintained across cell divisions.
A bioRxiv preprint uses spatial simulations to demonstrate that sparse sampling and rare-variant filtering interact to produce misleading artefacts in PCA-based visualisations of genetic population structure, and proposes an objective-guided manifold-learning framework as a remedy.
A 299-mouse F2 intercross experiment uses QTL mapping to explore why higher body weight can be associated with lower atherosclerotic lesion burden in a hyperlipidaemic model.
A preprint mouse study finds that diet and exercise reversal in obese male mice reshapes sperm RNA profiles and partially protects the next generation from metabolic disorders, suggesting an epigenetic mechanism for intergenerational inheritance.
A bioRxiv preprint describes a frameshift knock-in mouse model of MFM13, a rare autosomal dominant myopathy, and tests trehalose as a candidate therapy targeting the chaperone-assisted autophagy pathway.
A study finds that stable circular RNA derived from mobile genetic elements may provide a previously unrecognised route for transposable elements to move between bacterial species.
A preprint reports that locus-specific activation of transposable elements in UBA1-mutant haematopoietic stem cells may drive the complex inflammatory and clonal features of VEXAS syndrome.
Using longitudinal proteomics data from two major cohorts, researchers have begun mapping which genetic variants influence how protein abundances shift with age across diverse individuals.
A genome-wide association study in 100 Kunming dogs identifies SLC6A3 and implicates NRIP3 in dopaminergic regulation, offering a naturally occurring animal model for the genetics of social anxiety.
A new study proposes that the intense transcriptional activity of cancer superenhancers inflicts recurrent DNA double-strand breaks, with imperfect repair generating the mutations that fuel tumour evolution.
A preprint integrating DNA methylation data across 20 solid cancers finds that epigenetic age acceleration is not uniform — some tumour types appear younger than matched normal tissue, others older.
Replimune's oncolytic virus therapy RP1 has received FDA approval for advanced melanoma after two prior rejections, completing a prolonged regulatory journey reported by Stat News.
A new policy analysis from the PHG Foundation considers what an updated, polygenic-score-integrated BOADICEA model means for how familial breast-cancer risk should be assessed at a population level.
A bioRxiv preprint shows that auto-sumoylation of the SUMO E2-conjugating enzyme UBC9 at lysine 14 is required for normal meiotic prophase I and long-term maintenance of the female germline in a knock-in mouse model.
A PLOS Genetics study identifies SKN-1B, a neuronally expressed isoform of the Nrf family, as a regulator of a sexually dimorphic neuroendocrine pathway governing food-seeking behaviour in the roundworm.
A PLOS Genetics study using a dual-reference genome-wide association approach reveals biologically relevant resistance to Ralstonia solanacearum in tomato plants subjected to heat stress — a combination of stresses expected to become more common under climate change.
A bioRxiv preprint uses independent CRISPR-edited lines carrying the ARL13BV358A variant to map transcriptional consequences of losing ARL13B from cilia without abolishing ciliogenesis.
A preprint from budding yeast identifies Yra2 as a regulator of ubiquitin-mediated proteolysis of the centromeric histone variant Cse4/CENP-A, with implications for understanding chromosomal instability in cancer.
A preprint from bioRxiv describes a new SNP-PCR system applied to 51 mulberry samples, linking molecular marker diversity to variation in the medically studied compound 1-deoxynojirimycin.
A PLOS Genetics study in C. elegans identifies how a conserved lysine-depleted region in the E3 ubiquitin ligase EEL-1/HUWE1 maintains protein-degradation capacity under stress.
Chromosomal analysis of sika and red deer in Denmark finds variable Robertsonian translocations in sika that could prevent fertile first-generation hybrids, with implications for EU invasive-species policy.
Genomic analysis has identified signatures of introgression from two distinct extinct human populations beyond the Neanderthal and Denisovan contributions already known from ancient DNA research.
A preprint using CITE-seq data from over one million peripheral blood mononuclear cells pinpoints the causal allele at the CD40 locus and maps downstream trans-acting effects specific to activated B cells, pointing toward targeted rather than broadly immunosuppressive therapies.
Research published in PLOS Genetics identifies glial cells — not only neurons — as contributors to neurodegeneration in a Drosophila model of C9orf72-associated ALS and frontotemporal dementia.
A study reports that blood cancers destined to worsen carry identifiable genomic changes long before clinical progression, potentially helping researchers distinguish pathological from age-related haematopoietic changes.
A preprint sequencing study finds that the Columbia-0 reference strain of Arabidopsis thaliana has accumulated measurable genetic and epigenetic variation across independently propagated laboratory lineages since the 1950s, with implications for reproducibility in plant genetics.
Combining Oxford Nanopore and Illumina single-cell sequencing, researchers have mapped how the pituitary gland of Tibetan pigs differs from lowland counterparts at cell-type resolution.
An analysis of more than three million Wikipedia revisions across nearly 7,000 pages finds genetics terminology is disproportionately concentrated in articles about nationality and ethnicity, raising questions about how research on human genetic diversity is synthesised for public audiences.
A major genome-wide study has expanded the known genetic architecture of hyperemesis gravidarum to ten risk genes, several of which implicate appetite and nausea regulation pathways.
Researchers describe a new approach that estimates sampling bias in large genetic studies using only summary data, without requiring access to individual-level records.
A bioRxiv preprint identifies a transient window of extreme TCOF1 dosage-sensitivity in cranial neural crest cells, offering a mechanistic explanation for the tissue-specific effects of Treacher Collins syndrome.
Researchers report that the TIGR-Tas bacterial RNA-guided DNA-targeting system can be adapted as a versatile transcription activator, offering a smaller alternative to CRISPR-based activation tools.
An analysis of elite tetraploid potato clones published in PLOS Genetics maps evolutionarily constrained and hypervariable genomic regions, offering a route to understanding why genetic gains in potato breeding have been slow.
A preprint from yeast experiments identifies a role for the cohesin complex in preventing unequal sister chromatid exchange at repetitive genomic regions, extending the known functions of this critical genome-stability factor.
Reports of a death in a gene-editing clinical trial in China have raised fresh questions about trial design, informed consent, and international oversight of human genome-editing research.
A genome-wide association study in an outbred rat population identifies genetic loci linked to aversion-based learning and to the negative reinforcement processes thought to underlie cocaine use disorder.
A controlled mouse study published this week provides direct experimental evidence that germline genetic background influences both whether and how cancer develops after the same DNA-damaging event.
A new briefing from the PHG Foundation at the University of Cambridge outlines recommendations for EU and national governments seeking to embed genomics-informed prevention into health systems.
Parul Johri, Fanny Pouyet, and Brian Charlesworth set out conditions under which the widely used practice of simulating smaller populations to save computing time can distort results.
A bioRxiv preprint introduces theory and software for microhaplotype-based kinship estimation in autopolyploid species, with an application to a mixed-ploidy Actinidia germplasm collection.
A bioRxiv preprint introduces Flywheel Genomics, a strategy that embeds quantitative trait mapping directly into rapid-cycling breeding populations, demonstrated in a smallholder-oriented sorghum programme.
Multiple companies are pursuing CRISPR and gene-editing approaches for AATD, a rare inherited lung and liver disease, amid patent disputes, a start-up exodus, and US–China competitive tensions reported by Stat News.
Researchers publishing in PLOS Genetics have identified roles for small RNAs and mechanistic variation in Segregation Distorter, a well-studied but incompletely understood meiotic drive system in Drosophila melanogaster.
Researchers use Arabidopsis thaliana as a model to identify genetic loci linked to photosynthetic efficiency across environments, with potential long-term relevance for crop improvement.
A preprint integrates publicly available transcriptomic datasets from common bean (Phaseolus vulgaris) to identify candidate genes for abiotic and biotic stress tolerance, with cross-species application to cowpea.
Experimental CRISPR modifications improved immunotherapy responses in mouse models of prostate cancer, a tumour type that has historically resisted immune checkpoint approaches.
A study reports that TRF2 — previously characterised as a telomere-capping factor — is required to keep muscle stem cells from converting to fat or scar tissue after injury.
A PLOS Genetics study in Drosophila melanogaster identifies sex-specific transcriptomic changes — including elevated takeout expression — that link social isolation to altered feeding behaviour.
Aurora Therapeutics has scrapped its plan to scale individualised CRISPR gene-editing therapies after finding that FDA requirements — though framed as flexible — remain beyond the reach of a small startup.
More than 19,000 large-scale genomic variants — many in immunity and olfaction genes — may explain how a small founding population survived inbreeding and conquered an island ecosystem.
Researchers report in PLOS Genetics that Matrix Metalloprotease 1 promotes epithelial-to-epithelial cell fate conversion and physical cell translocation during wing disc regeneration in Drosophila larvae exposed to ionising radiation.
Cancer Research UK's policy team examines whether commitments in the National Cancer Plan are sufficient to meet the ambition of expanding clinical trial access in the UK.
A preprint introduces MMMAS v1.0.0, an open-source system that converts pairwise Mendelian mismatch counts into population-scale diagnostics for detecting erroneous pedigree records, duplicate accessions, and undocumented kinship in germplasm repositories.
The three institutions have announced a joint initiative to develop gene therapies targeting rare diseases, pooling expertise across genomics, clinical research, and model-organism biology.
A study finds that the longevity-associated APOE2 allele reduces DNA damage accumulation in brain cells and aids neuronal stress recovery, pointing towards a potential mechanistic target for Alzheimer's research.
Researchers describe an R package that uses nonlinear regression to correct for model misspecification in studies mapping how genetic variants modify molecular responses to experimental treatments.
A preprint describes an anticodon-edited tRNA that achieves up to 86% readthrough across 13 clinically relevant Arg-to-stop variants, offering a gene-agnostic strategy for a prevalent subclass of inherited retinal disease.
An FDA expert committee has backed Replimune's RP1 (vusolimogene oderparepvec) for melanoma, potentially paving the way for a new class of oncolytic virus therapy if the agency follows the recommendation.
A PLOS Genetics study uses gene co-expression network modelling to predict which transcription factors drive ABA-dependent gene activation and repression in Populus roots under non-stress developmental conditions.
A PLOS Genetics study finds that triploid enset plants — carrying three copies of the genome rather than two — appear to have been repeatedly selected by horticulturalists for yield benefits, without any knowledge of the underlying genetics.
A bioRxiv preprint from Cold Spring Harbor Laboratory uses Saccharomyces cerevisiae to systematically characterise how individual pathogenic variants in EXOSC3 — linked to human neurological disease — affect the RNA exosome complex.
A preprint reports that breaking Arabidopsis chromosome 3 at the centromere with CRISPR-Cas9 produces two stable telocentric neo-chromosomes that display distorted meiotic inheritance, offering a tool to study centromere biology and karyotype evolution.
A bioRxiv preprint integrating multi-omics data and machine learning finds that local chromatin state — particularly H3K36me3 — consistently predicts site-specific adenosine-to-inosine RNA editing efficiency across species and developmental contexts.
A bioRxiv preprint shows that loss of the H3K9me2-writing enzyme MET-2 enlarges autosomes during spermatogenesis in C. elegans but leaves chromosome size during oogenesis and X univalents unaffected, revealing sex-specific roles in meiotic chromosome compaction.
A patient advocate writing in Stat News argues that regulatory tools designed to accelerate rare-disease approvals are instead creating new barriers for limb girdle muscular dystrophy treatments.
A bioRxiv preprint integrating whole-genome sequencing, transcriptomic, and epigenomic data proposes that an overlooked non-coding regulatory signal may help explain why GBA1 coding variants substantially raise Parkinson's disease risk.
Researchers describe a new sequencing chemistry designed to capture full-length RNA transcripts at single-cell resolution and at the throughput needed for million-cell experiments.
A study in insulin-producing cells finds that disrupting a key protein-folding helper allows damaged insulin to accumulate and lowers insulin secretion, pointing to a potential avenue for preserving beta-cell function.
A bioRxiv preprint identifies aberrant expression of the long non-coding RNA Hsrω-n as a contributor to neuronal toxicity in a Drosophila model of fragile X-associated tremor/ataxia syndrome.
A new theoretical framework published in PLOS Genetics uses age-specific penetrance data to improve on the standard 50% carrier-risk figure given to relatives of C9orf72 mutation carriers.
A bioRxiv preprint argues that the CERIS-JGRA framework for mapping the genetics of phenotypic plasticity contains a structural design flaw that limits its ability to detect sensitivity independent of mean performance.
A correction notice has been published for the PLOS Genetics paper identifying novel type 2 diabetes mellitus genes through meta-evolutionary exome analysis of the UK Biobank and All of Us cohorts.
Researchers from the Million Veteran Program and collaborating institutions publish a genomic-led framework in PLOS Genetics that uses genetic evidence to flag potential drug safety issues early in development.
Applying evolutionary theory to oncology, researchers propose that rapidly alternating between multiple treatments — before resistance emerges — could improve cancer cure rates.
Researchers describe statistical methods that leverage differences in linkage disequilibrium and allele frequencies across ancestries to improve identification of likely causal variants in genome-wide association studies.
Using simulated phenotypes on real Duroc pig genotypes, researchers show that standard GWAS methods can produce strong, apparently localised associations even when no discrete nearby causal variant exists.
Seven research laboratories will share ARPA-H funding aimed at accelerating individually tailored gene-editing therapies for patients with rare genetic conditions.
A Stat News newsletter item notes a reported death in a gene-editing trial in China, adding further pressure on international oversight bodies days after a second child death was already covered by Genetic Current.
A bioRxiv preprint from Cold Spring Harbor Laboratory characterises NPR-14, a G-protein-coupled receptor in Caenorhabditis elegans, as a promoter of arousal that suppresses sleep-like quiescence — offering a genetically tractable model for studying conserved sleep-regulatory pathways.
A bioRxiv preprint describes a zinc finger nuclease approach that inserts a functional rhodopsin gene copy regardless of which of nearly 100 pathogenic RHO variants a patient carries, aiming to circumvent the mutational heterogeneity that limits variant-specific therapies.
A genome-wide study has calculated the koala's mutation rate for the first time and traced all living koalas to a small ancestral population that endured a climate-driven bottleneck long before human settlement of Australia.
Researchers have identified claudin-4 as the entry receptor for a bacterially derived toxin associated with colorectal cancer, and designed a decoy protein that blocked it in a mouse model.
A bioRxiv preprint using single-fly Nanopore sequencing tracks transposon copy accumulation in Drosophila lacking the piRNA biogenesis factor HP1D/Rhino, revealing that disrupted silencing produces sporadic rather than continuous transposition.
Published in PLOS Genetics, a study by Gittrich and colleagues uses high-throughput RB-TnSeq screens to identify both shared and phage-specific bacterial genetic requirements for bacteriophage infection in Klebsiella.
Screening of 1,562 Finnish extended families links heterozygous INTS6 variants to mild intellectual disability, implicating the Integrator complex phosphatase module in a neurodevelopmental disorder.
A bioRxiv preprint presents a two-locus CRISPR toxin-antidote gene drive architecture intended to spread through target populations while remaining containable — a key safety consideration for field deployment.
A chromosome-scale genome assembly of Aegilops speltoides identifies overexpression of cohesin and additional B chromosome-encoded genes as correlates of root-specific elimination of supernumerary chromosomes.
A preprint on bioRxiv presents snpXplorer, a browser-based tool designed to help researchers explore GWAS loci within their haplotype context and integrate functional and regulatory evidence.
Roche has ended its gene-silencing efforts targeting Huntington's disease, a setback for a field that has seen several high-profile programme failures in recent years.
Patient-derived fibroblast data in a bioRxiv preprint suggest that ASXL1 truncating variants — found in both Bohring-Opitz syndrome and myeloid leukaemia — drive a shift towards aerobic glycolysis by suppressing mitochondrial pyruvate import.
A bioRxiv preprint presents the most comprehensive long-term evaluation to date of genomic selection in cassava breeding, tracking four recurrent selection cycles from 2011 to 2024 in the Brazilian national programme.
A PLOS Genetics study identifies a mutation in unc-31 that alters DAF-2B expression and shows that the ratio of DAF-2B homodimers to heterodimers with full-length DAF-2 shapes insulin-like signalling output.
A bioRxiv preprint reports that platypus and echidna carry novel DMRT gene arrangements, filling gaps in understanding of how this conserved sex-determination gene family evolved across vertebrates.
A new Drosophila tumour model published in PLOS Genetics implicates Polycomb Repressive Complex 1 in maintaining intestinal stem cell identity and restraining cancer-like growth.
A PLOS Genetics study characterises how small RNA populations — including microRNAs and tRNA-derived fragments — shift across three day-length conditions in the model plant Arabidopsis thaliana.
A preprint from Cold Spring Harbor Laboratory describes a zebrafish system that uses functional surrogacy to model vascular Ehlers-Danlos syndrome and reclassify COL3A1 variants where pathogenicity is unclear.
A PLOS Genetics study from Sophien Kamoun's group and collaborators examines how helper and sensor NLR immune receptors in lettuce have evolved at different rates following functional divergence within the NRC network.
A PLOS Genetics study identifies Wiz as a regulator of clustered protocadherin gene expression by constraining CTCF and cohesin loop extrusion in a genomic-distance-dependent manner.
MetaboXcan, described in a bioRxiv preprint, extends transcriptome-wide association study approaches to the metabolome, aiming to bridge the gap between GWAS hits and disease mechanisms.
A bioRxiv preprint using the Ts65Dn mouse model reports that male and female animals show distinct responses to neonatal DYRK1A reduction, highlighting sex as a variable in Down syndrome therapeutic research.
Researchers report a computational method for inferring individual genotype fitness from time-series sequencing data without requiring assumptions about the maximum order of epistasis.
Researchers characterise resistance to an emerging polerovirus in corn using a large diversity panel, identifying low-titer inbred lines as candidates for developing resistant cultivars.
A spontaneously tumour-prone gecko shares key oncogenic genetic changes with human cancers, offering researchers a rare naturally occurring animal model.
A bioRxiv preprint systematically evaluates Oxford Nanopore R10.4.1 flow cells and multiple basecalling tiers for autosomal and Y-chromosome short tandem repeat profiling, assessing suitability for forensic DNA analysis.
A PLOS Genetics study by Weykopf and colleagues including researchers at the MRC Human Genetics Unit uses enhancer reporter assays to functionally characterise non-coding variants associated with severe SARS-CoV-2 outcomes.
A bioRxiv preprint reports that two Ulva species responsible for Yellow Sea green tides can form viable hybrids in both mating directions, and documents an unusual pattern of paternal chloroplast transmission.
A preprint reports that dizygotic twins in a consanguineous family carry both a novel EPS8 variant linked to hearing loss and an HPDL variant associated with neurodevelopmental disorder, illustrating how multilocus pathogenic variation can produce complex overlapping phenotypes.
Integrative analysis across multiple CNS regions distinguishes molecular signatures of C9orf72-expansion ALS from non-C9orf72 cases, published in PLOS Genetics.
A PLOS Genetics study by Bush, Conery, and colleagues provides the most detailed crossover map to date in Caenorhabditis elegans, documenting pronounced sexual dimorphisms in crossover distribution linked to meiotic chromosomal features.
Yushi Tang and John Storey at Princeton describe the gTMT, a causal inference framework that identifies genetic loci with average causal effects on child phenotypes in population-sampled nuclear families.
Reduced activity of the transcription factor GATA6 allows colorectal cancer cells to adopt a fetal-like, highly plastic state capable of seeding liver metastases — driven by epigenetic rather than mutational change.
Researchers at the University of Washington have updated the FLARE local ancestry inference algorithm to handle populations lacking a closely matched reference panel, broadening its utility for diverse genomic datasets.
A Cancer Research UK commentary piece explores how broad consent frameworks can enable more effective reuse of research datasets as data interrogation technologies advance.
A bioRxiv preprint from population genomics researchers sets out ancestry-stratified guidance for controlling false-discovery rates in HLA allele association studies derived from sequencing-based typing.
Researchers report that template vectors used for CRISPR/Cas9 homology-directed repair in Drosophila melanogaster germline editing integrate into the genome at high frequency, creating unintended mutations.
The editors of PLOS Genetics have issued a retraction of a study that described microRNA-22 as a regulator of monocyte and macrophage differentiation and acute myeloid leukaemia.
A PLOS Genetics study by Martinez-Whitman and colleagues challenges the assumption that translesion synthesis polymerases are broadly recruited to stalled replication sites, with implications for understanding mutagenesis regulation in bacteria.
A trainee-led bioRxiv preprint reports that exposure to the 2023 NASEM guidelines on population descriptors improves ethical awareness but does not eliminate fundamental misunderstandings about the relationship between race and ancestry.
A bioRxiv preprint identifies the Drosophila FET-family protein Cabeza as an essential cofactor for ETV4-driven activation of GGAA microsatellite sequences, a mechanism relevant to Ewing sarcoma and related malignancies.
A multi-institution study published in PLOS Genetics maps a previously unknown genomic locus contributing to reproductive isolation across a natural hybrid zone in snapdragon plants.
A bioRxiv preprint using Alzheimer's disease summary statistics shows that LDSC regression estimates of SNP heritability vary substantially depending on how summary statistics were generated and which LD reference panel is used.
A bioRxiv preprint reports that dicentric chromosome breaks in Drosophila cluster at nonrandom genomic locations and that the repair process produces unexpectedly complex structural rearrangements.
A preprint from the Human Pangenome Reference Consortium describes EdgeDepth, a graph-based method that outperforms linear-reference approaches when mapping genetic variants associated with gene expression.
Scientists at Harvard have built a silicon chip that uses electrical signals and water-based enzymes to synthesise multiple DNA sequences in parallel, offering a potential alternative to conventional chemical DNA manufacturing.
A new study reported by Cancer Research UK finds evidence that people under 55 are biologically ageing more rapidly than older cohorts, a trend researchers say may be connected to increasing rates of early-onset cancer.
Researchers have assessed the functional effects of missense variants of uncertain significance in the ECD1 region of ABCA4, which is implicated in Stargardt disease and other inherited retinal conditions.
A preprint introduces FIR-GWAS, which integrates allele frequency, effect magnitude, and statistical reliability to reveal spatially continuous structure along genomic coordinates in existing GWAS datasets.
A preprint using droplet digital PCR finds substantial variation in pancreatic amylase gene copy number among wild carnivores with minimal starch exposure, extending the AMY2B story beyond domestic animals.
STAT News reports that a Roche drug targeting KRAS-mutant lung cancer has demonstrated results sufficient to be described as a new standard of care, in a development with implications for hereditary cancer research and somatic genomics.
Researchers have described a molecular pathway by which physical activity preserves muscle function in older tissue, centred on suppression of the transcription factor DEAF1.
A bioRxiv preprint reports that multiplexed sgRNAs targeting the sex-determination gene doublesex can overcome drive resistance in Drosophila suzukii, a globally invasive crop pest.
Using a Fisher geometry framework, researchers show that conventional LD measures such as r² perform poorly in asymmetric, rare-common haplotype configurations — with implications for fine-mapping and population genetics.
A preprint from bioRxiv presents a modelling framework for M-locus-linked genome editors that skew offspring sex ratios in Aedes aegypti, the mosquito that transmits dengue, Zika, and other arboviruses.
Researchers have used base-editing and prime-editing tools in early human embryos to probe developmental gene function, achieving improved on-target precision while prompting renewed ethical scrutiny.
Prime Medicine has announced it prevailed in an arbitration against Beam Therapeutics over gene-editing technology rights, resolving a dispute between two prominent companies in the field.
A multi-site autopsy study published in PLOS Genetics uses genome-wide association to map genetic loci associated with the physical hallmarks of Alzheimer's disease and related dementias, rather than clinical diagnosis alone.
Filipe Cabreiro argues in Cancer Research UK's research blog that understanding colorectal cancer risk requires integrating the biology of ageing, host physiology, and the gut microbiome.
A PLOS Genetics study using SNP data from a pregnancy cohort finds significant heritability for 19 immune biomarkers and genome-wide significant signals for 34, shedding light on the genetic architecture of immune adaptation in pregnancy.
A peer-reviewed study in PLOS Genetics uses Drosophila to characterise how sex shapes the regulation and function of cellular immune responses, with potential implications for understanding sex-biased immunity more broadly.
A mouse knockout study finds that deleting the metabolic enzyme Pck1 selectively in macrophages leaves aortic root plaque burden unchanged, refining the functional map of the Ath28.1 quantitative trait locus.
A bioRxiv preprint describes an AAV-U7-SnRNA approach to skip exon 17 of the NF1 gene, with AAV-F capsid outperforming AAV-9 and AAV-B1 in biodistribution and exon-skipping efficiency in humanised mouse models.
A bioRxiv preprint reports that replicate detection frequency in metabarcoding assays correlates with ddPCR-derived copy numbers for cod and herring eDNA recovered from ancient marine sediments, offering a semi-quantitative tool for sedaDNA studies.
A bioRxiv review preprint catalogues the methodological and data-sharing obstacles that currently limit researchers' ability to move from GWAS loci to mechanistically understood causal variants.
An opinion piece in STAT News marks the death of Joseph Fraumeni Jr., the NCI epidemiologist whose work with Frederick Li identified the hereditary cancer syndrome that bears their names.
A bioRxiv preprint uses the bovine EpiChip methylation array to map methylation quantitative trait loci across the cattle genome, opening new avenues for dissecting complex trait regulation in livestock.
A bioRxiv preprint describes a statistical framework that explicitly accounts for population bottleneck size when applying neutrality tests to variant frequency data, aiming to better distinguish drift from selection.
A preprint integrating biobanks from Japan, Korea, Taiwan, and China reports 8,010 previously unreported genetic associations and characterises patterns of genetic sharing within East Asian populations.
The US Food and Drug Administration has reversed its earlier opposition, allowing UniQure to file its investigational RNA-interference treatment for Huntington's disease for regulatory review.
Researchers examining post-mortem brain tissue from people with severe MS found that immune cells overloaded with lipid droplets appear to switch from repairing myelin to sustaining inflammation.
A PLOS Genetics study shows that two Argonaute proteins localise to sex chromatin during meiosis and are necessary for silencing XY-linked genes — a finding that advances understanding of male fertility and germline gene regulation.
A bioRxiv preprint introduces CATaN, a computational method that integrates transcription factor gene regulatory networks with transcriptomic data to identify how causal variants at TF binding sites contribute to heritable disease risk.
A preprint using structural modelling across more than one million genomes classifies over 600 ARID1B missense variants as damaging to protein interactions or stability, offering a resource for interpreting the large majority of variants that currently lack clinical classification.
Researchers have determined the precise three-dimensional structures of two natural compounds from rye pollen that showed anti-tumour activity in earlier animal studies, providing a molecular blueprint for further investigation.
A preprint using 1,078 Brazilian cassava clones and 25,923 SNPs finds that multi-trait GBLUP models outperform single-trait approaches for agronomically important but costly-to-phenotype traits.
A PLOS Genetics paper introduces MIFM, a machine-learning approach that groups putatively causal GWAS variants to overcome the absence of ground-truth labels, offering a new route to identifying functional regulatory variants.
Cancer Research UK reports that new data provide the strongest evidence to date that the UK HPV vaccination programme is reducing not only cervical cancer incidence but cervical cancer mortality.
Researchers argue that standard scalar LD measures such as r² and D' can obscure structurally distinct patterns of haplotype sharing, and propose a geometric framework grounded in 1000 Genomes data.
Researchers have found that migrating neurons in the developing brain suffer severe DNA damage as they navigate tight spaces — and that an efficient repair mechanism corrects this damage almost immediately.
The new gene-editing startup is targeting alpha-1 antitrypsin deficiency, a rare inherited lung and liver disease, following a reverse-merger and a licensing deal with a Chinese biotech company.
A bioRxiv preprint using whole-genome bisulfite sequencing finds that infection with the parasitic leech Ozobranchus margoi is associated with DNA methylation variation in loggerhead sea turtles, with evidence the signal may persist across generations.
A preprint describes nanoASM, a framework using whole-genome nanopore sequencing to simultaneously profile germline variants and allele-specific methylation, identifying noncoding regulatory changes in normal and tumour prostate tissue.
Analysis of admixed Brazilian elderly cohorts finds deviations from expected APOE ε2 genotype frequencies, raising questions about whether its longevity-protective role generalises beyond European-ancestry populations.
A bioRxiv preprint shows that two long non-coding RNAs arising from genomic duplication retain a shared regulatory function in a key cell-signalling pathway, despite divergent genomic contexts.
Researchers have developed haplotype-specific FISH probes for the sedge Rhynchospora breviuscula, enabling the first detailed mapping of meiotic recombination in a plant with chromosomes that lack a discrete centromere.
A large-scale comparative analysis identifies three birth mechanisms for shadow enhancers — redundant regulatory elements controlling the same developmental gene — across Drosophila and mouse genomes.
A preprint from Cold Spring Harbor Laboratory applies saturation genome editing to reclassify more than 9,000 variants of uncertain significance in two hereditary cancer genes.
Michelle Sie Whitten of the Global Down Syndrome Foundation writes in STAT News that women receiving a prenatal Down syndrome diagnosis are routinely given outdated or incomplete information about life expectancy and quality of life.
Researchers used single-cell RNA sequencing and spatial transcriptomics to characterise how adult zebrafish achieve scar-free wound healing, a capacity lost in adult mammals including humans.
A preprint combining SNP array genotyping and whole-genome sequencing has detected a previously undescribed local genetic cluster of Ostrea edulis along French Atlantic and Channel coasts, with implications for conservation translocation programmes.
A PLOS Genetics study from researchers at Children's National Hospital and the Stowers Institute provides the largest functional dataset to date for variants in ASS1, the gene disrupted in citrullinaemia type I, and reveals unexpected epistatic interactions between variants.
Back-to-back bioRxiv preprints use large clinical datasets and nasal airway cell measurements to examine how CFTR channel function relates to disease severity and to respiratory symptoms in carriers.
Researchers publishing in PLOS Genetics have identified a nuclear ubiquitination system that targets the Cre1 repressor in Trichoderma reesei, revealing a new regulatory layer controlling industrial cellulase gene expression.
Researchers have characterised the effects of P-element-induced hybrid dysgenesis in Drosophila simulans, finding parallels with and differences from the well-studied D. melanogaster system.
Researchers report that EXO1, a gene ordinarily involved in DNA repair, becomes damaging when cells produce too much of it — cutting DNA inappropriately and creating a potential vulnerability that may be exploitable in cancer research.
A study of families with exceptional longevity has identified rare variants—including one that appears to temper chronic inflammation—that may help sustain health into later life.
Scientists at Baylor College of Medicine report that tubulin—the structural protein of cellular transport networks—can divert Tau and alpha-synuclein from forming the toxic clumps associated with Alzheimer's and Parkinson's disease.
A preprint reports the first genetic confirmation of the invasive golden mussel in North America, alongside development of an eDNA monitoring protocol designed to support rapid detection.
Researchers at the University of North Carolina have mapped protein–RNA associations for Airn and Kcnq1ot1, two lncRNAs that silence large chromosomal domains, and found that the RNA-binding protein HNRNPU is necessary for their long-range repressive activity.
Researchers sequencing Cape Floristic Region leopard genomes found the population is genetically distinct and substantially smaller-bodied than other African leopards, with retained diversity despite long isolation.
A comparative genomics preprint analyses transposable element composition across diverse protist lineages, asking whether TEs may have influenced genome architecture during transitions to multicellularity.
A cross-cohort analysis of nearly 20,000 individuals from four British birth cohort studies shows that polygenic risk for high body mass index became a stronger predictor of observed BMI in cohorts born later into the obesity epidemic.
A GPU-accelerated reimplementation of the coloc algorithm, published in PLOS Genetics, makes it feasible to test colocalisation across millions of association signals from large biobanks and molecular QTL studies.
Researchers report that somatic mutations associated with haematological malignancies could trigger neuroinflammation implicated in Alzheimer's disease, suggesting a previously unrecognised mechanistic overlap between the two conditions.
A STAT News opinion piece argues that recent technical progress in human embryo editing demands structured ethical debate before the science moves further ahead.
A new open-source R package consolidates multiple methods for estimating genetic liability from large pedigree registries, benchmarked against Nordic population data.
A bioRxiv preprint characterising single-deletion mutants for each member of the TLO gene family in the fungal pathogen Candida albicans reveals interconnected functional networks with only partial redundancy among paralogs.
Using Danio rerio as a model organism, researchers describe how enzyme deficiencies affecting oligosaccharide assembly and breakdown impair sperm condition through protein aggregation and oxidative stress, with potential relevance to understanding human male infertility in congenital disorders of glycosylation.
A preprint reports that in vivo CRISPR editing targeting the mismatch repair gene Msh3 slowed somatic CAG repeat expansion and mitigated disease pathology in a Huntington's disease mouse model.
A preprint from Cold Spring Harbor Laboratory describes a 'dish-to-biobank' framework that connects controlled glucolipotoxicity stress in stem-cell-derived beta cells to population-scale type 2 diabetes genetics via the plasma proteome.
A new method using genetic traces left by transposable elements has reconstructed the evolutionary history of the cultivated strawberry genome, revealing multiple ancient polyploidisation events.
A selective sweep analysis has identified a T183M substitution in the circadian regulator FBXL3 that is enriched in sheep breeds capable of breeding outside their natural season.
A PLOS Genetics study in fission yeast identifies a Rad3ATR FAT domain mutation that constitutively activates kinase activity and removes the need for 9-1-1 complex phosphorylation in triggering the DNA replication checkpoint.
A benchmarking study challenges the standard practice of removing related individuals before demographic inference, showing that close relatives carry useful signal about recent population history.
A bioRxiv preprint using mice lacking a 38-amino-acid C-terminal domain of MSH5 identifies a mammalian-specific molecular switch that controls how meiotic recombination sites progress from licensed intermediates to designated crossovers.
The UK National Screening Committee has endorsed a risk-stratified approach to prostate cancer screening, focusing on men who carry a BRCA2 pathogenic variant and have a relevant family history of cancer.
As the Human Cell Atlas marks its tenth anniversary, STAT News reports that a senior figure's commercial relationship with a major single-cell sequencing vendor is drawing scrutiny.
A new mathematical framework published in PLOS Genetics models how whole-chromosome copy-number imbalances arise, persist, and revert in cell populations, with implications for understanding aneuploidy-driven disease.
Population genomics of Aedes albopictus in five Colombian departments reveals complex invasion history including multiple entry routes, trade-associated connectivity, and mito-nuclear discordance.
Analysis of species that have lost PRDM9 — including birds and dogs — finds distinct sex-specific recombination patterns at CpG-island hotspots, extending understanding of heterochiasmy beyond PRDM9-directed systems.
A preprint from work in Caenorhabditis elegans shows that AHR-1 expressed in neurons influences which bacteria colonise the gut through a neuroendocrine redox pathway, revealing a distant-organ mechanism for microbiome assembly.
Researchers have identified a compound that blocks the DNA repair mechanism cancer cells exploit to survive treatment, potentially reversing resistance to PARP inhibitor therapies.
Researchers describe a regulatory element within the Tibetan adaptive EPAS1 haplotype that shows blunted hypoxia response and is also active in adipocytes, suggesting cold-climate adaptation may be part of the same selective sweep.
A bioRxiv preprint provides evidence that the embryo-lethal effects of Wolbachia-induced cytoplasmic incompatibility are mediated, at least in part, by heritable epigenetic chromatin modifications rather than purely mechanical replication failure.
A preprint leveraging the gnomAD v4 dataset of over 730,000 exomes proposes improved methods for characterising elevated mutation rates and predicting the pathogenicity of rare coding variants.
A bioRxiv preprint reports that male Peromyscus leucopus express the lncRNA Xist but with a restricted chromatin-repression response and incomplete X-linked dosage compensation, challenging canonical models of X-chromosome inactivation.
A study has identified heritable variants that appear to reduce responsiveness to GLP-1 receptor agonists in clinical trials, potentially explaining why a subset of patients fail to reach glycaemic targets.
A preprint introduces a spectral decomposition algorithm that detects imprinting and other parent-of-origin effects using unphased population GWAS datasets, removing the requirement for family-based study designs.
A preprint introduces a searchable resource connecting CpG methylation sites to gene expression levels across 11 tissue types, offering a new tool for interpreting epigenome-wide association study findings.
Research in C. elegans shows that GLO-1 controls gut-granule biogenesis while a separate mechanism drives zinc-induced granule expansion, revealing divergent pathways for zinc detoxification in a model organism.
A preprint from Cold Spring Harbor Laboratory describes genome-wide pairwise disruption of 233 DDR genes in cancer-relevant cell lines, revealing how repair pathway components interact functionally.
Researchers developed a probabilistic framework to assess how accurately polygenic predictions of observable traits could be used to re-identify an anonymised genome, finding the practical risk lower than some prior estimates suggested.
A bioRxiv preprint characterises how the honey bee parasite Varroa destructor deploys RNA interference against viruses across its life cycle, revealing that established viral infections produce an unusual small RNA signature and that viruses are transmitted vertically through mite generations.
A bioRxiv preprint combining human infarction tissue analysis and lineage-tracing experiments in mice reports that cardiomyocytes can directly contribute to myocardial fibrosis via a mesenchymal-like fate change.
A preprint screening 487 skeletal samples from Classic Period Maya sites uses genetic kinship analysis to connect high-status tomb occupants with individuals whose remains were deposited in geographically separate cave contexts.
A bioRxiv preprint demonstrates that loss of the replication-coupled histone chaperone CAF-1 disrupts PRC2-directed H3K27me3 heterochromatin structure and causes widespread transcriptional misregulation in the model fungus Neurospora crassa.
A preprint reports that 4% of Rwandan breast cancer cases in a 175-woman cohort carry a single recurrent BRCA1 frameshift variant tracing to a common ancestral haplotype of around 581 kb.
A preprint reports that base editors — which introduce single-letter DNA changes without cutting both DNA strands — avoided the aneuploidy and large deletions seen with standard CRISPR-Cas9 in early human embryos.
Researchers at CIMMYT and collaborating institutions have identified and mapped adult plant resistance loci to stripe rust in the wheat line Kijil, validated across field environments in Mexico and China.
A bioRxiv preprint reports a forward genetic screen identifying modulators of alpha-synuclein-induced dopaminergic neuron loss through the mitochondrial unfolded protein response pathway in C. elegans.
A preprint from Brazil's Embrapa breeding programme applies multiple GWAS models to one of the largest cassava phenotyping datasets assembled, identifying loci associated with nutritional quality traits important for food security.
STAT News reports that the Office for Human Research Protections has seen an unprecedented departure of experienced staff, raising concerns about oversight of federally funded research involving human volunteers.
Analysis of polr3a mutant zebrafish shows that loss of this Pol III subunit specifically impairs neural crest cell-derived craniofacial structures, clarifying how POLR3-related disease variants cause tissue-specific developmental defects.
A large-scale mouse study has mapped epigenetic marks that violate classical inheritance rules, including what researchers describe as the first naturally occurring paramutation documented in a mammal.
A STAT News commentary argues that the bottleneck for transformative gene therapies is no longer biological but financial, calling for structural reform in how payers and health systems fund one-time curative treatments.
A bioRxiv preprint from 2026 proposes that astrocytes — not only neurons — may contribute to the pathophysiology of CDKL5 Deficiency Disorder, a rare developmental epileptic encephalopathy.
A preprint using a humanised APOE-TOMM40 mouse model reports that TOMM40 poly-T variants associated with Alzheimer's disease risk produce distinct lipid profiles depending on sex and tissue type.
A PLOS Genetics study in Haloferax volcanii identifies CsmR as a transcriptional regulator that simultaneously controls archaellum-driven movement and morphological form, extending understanding of archaeal gene regulation.
A bioRxiv preprint reports that a betaine aldehyde dehydrogenase gene, LsBADH1, is responsible for the production of 2-acetyl-1-pyrroline — the compound behind the characteristic sweet fragrance of certain lettuce cultivars.
Early data from a Phase 1 study of VERVE-102, a base-editing therapy targeting PCSK9, show substantial LDL-cholesterol reductions at high doses, though the therapy remains at an early investigational stage.
A preprint from Cold Spring Harbor Laboratory describes a helper-dependent adenoviral vector approach targeting two genomic loci to overcome low homology-directed repair rates in CFTR replacement.
Using temporally controlled overexpression and single-cell RNA sequencing, researchers at Yale University identify how two transcription factors repress the progenitor state to promote somite formation.
A bioRxiv preprint analyses postmortem brain samples from 168 admixed Black American adults to resolve how inherited genetic variation and environmental exposure jointly shape the brain methylome — an underrepresented population in such research.
A bioRxiv preprint describes two engineered fusion promoters — Pikali and Nocchu — that drive broader and more balanced transgene expression across both rod and cone photoreceptors than existing options, a longstanding challenge in retinal gene therapy research.
A PLOS Genetics study dissects how a single mutation in the Tel2-Tti1-Tti2 co-chaperone complex can knock out one PIKK kinase whilst leaving five others intact.
Using single-stranded DNA as a sensitive mutational reporter, researchers characterise how redox agents enhance mutation rates during horizontal gene transfer and leave distinct genomic footprints.
Researchers have posted a preprint describing MAGI, a computational method that uses genomic foundation models to generate mechanistic annotations of genetic variants — aiming to move beyond binary pathogenicity labels towards interpretable biological explanations.
Researchers show that a previously uncharacterised gene pair connects Mycobacterium tuberculosis's endogenous heme pathway to its response to nitric oxide and iron limitation encountered during host infection.
A bioRxiv preprint using high-throughput phenotyping and doubled haploid populations identifies genetic variants governing maize root architecture under cold stress, with implications for temperate-region breeding.
A bioRxiv preprint introduces POCKET-seq, a sequencing approach that reveals frequent off-target dCas9-KRAB binding and shows it can generate false-positive results in CRISPR interference genetic screens.
Disabling the transcription factor NFIL3 in engineered CAR T cells prolonged their anti-tumour activity in mouse models, according to new research reported by ScienceDaily.
Researchers studying the Mediator Kinase Module find that heterozygous MED13L variants consistently produce aberrant cyclin C localisation and mitochondrial dysfunction across multiple patient-derived cell models.
Research by Fujioka, Ke, Schedl, Jaynes and colleagues shows that the Drosophila insulator elements homie and nhomie can interact with distant copies individually or together, producing distinct outcomes for enhancer–promoter communication.
A bioRxiv preprint using wild and wild-derived Drosophila lines finds that standing genetic variation is sufficient to produce virtually every predicted qualitative change in Rh5/Rh6 expression in R8 photoreceptors, illustrating the breadth of phenotypic potential in natural populations.
A preprint from Cold Spring Harbor Laboratory reports that AAV-mediated delivery of the HGD gene to the liver normalised homogentisic acid accumulation in Hgd-deficient mice, pointing to a potential curative approach for this rare metabolic disorder.
A bioRxiv preprint traces divergent GWAS behaviours in small-population species to low effective genomic dimensionality, offering a theoretical framework with practical implications for livestock breeding programmes.
A PLOS Genetics methods paper from researchers across Norway, the US, and the UK describes a linear mixed-effects extension that improves discovery of longitudinal gene–phenotype associations in large biobank datasets.
Researchers studying the hexaploid crucian carp Carassius gibelio report that asexual females use meiosis without chromosomal crossover — achiasmatic meiosis — to produce unreduced eggs carrying both the clonal genome and supernumerary B chromosomes.
Researchers at the University of Tennessee publish a quantitative model in PLOS Genetics estimating how frequently ribosomes abandon transcripts before reaching a stop codon, and what energy burden these nonsense errors place on the cell.
A University of California San Francisco team has applied to the FDA for permission to run a small first-in-human trial of gene therapy delivered before birth for a rare lysosomal storage disorder.
A new actively maintained mtDNA reference tree incorporating hundreds of thousands of sequences replaces the retired PhyloTree resource and substantially increases haplogroup resolution for population and ancestry research.
Researchers at Université de Montréal have published evidence that the barrier-to-autointegration factor (BAF) protein protects against aberrant innate immune signalling triggered by chromatin bridges, clarifying how cells distinguish self-DNA from damage-derived immunostimulatory DNA.
Researchers at Columbia University have used population genetic and functional approaches to show that spatially clustered amino acid substitutions in the Drosophila Trio protein arise through intramolecular epistasis, providing rare direct evidence for a theoretically predicted but empirically understudied evolutionary constraint.
A bioRxiv preprint reports that loss of the innexin gene inx-20 in the alimentary tract of the roundworm C. elegans substantially prolongs reproductive span independently of somatic ageing, suggesting gut-to-germline signalling shapes the timing of reproductive senescence.
A PLOS Genetics study shows that the neuromedin U receptor NMUR-1 tempers insulin pathway activity in C. elegans, shaping how the worm survives on distinct bacterial food sources.
Research described by ScienceDaily suggests that Earth's earliest animals may have held back their own evolutionary diversification through asexual reproduction, and that environmental pressures favouring sexual reproduction were associated with a subsequent acceleration in biodiversity.
A multi-omics study of 432 dairy cows using Oxford Nanopore long-read sequencing identifies thousands of previously uncharacterised transcript isoforms and fine-maps regulatory effects across 11 molecular phenotypes.
A bioRxiv preprint using multi-omic and patient-derived cell analyses reports that loss of cytoplasmic UBA1 activity in VEXAS disrupts ER-associated degradation and mitochondrial homeostasis, activating the cGAS-STING innate immune axis.
A bioRxiv preprint reports a multi-tissue investigation connecting genome-wide association study risk loci for adolescent idiopathic scoliosis to biological function via transcriptomic and functional analyses.
Researchers report that the B-box protein BBX5 promotes shade avoidance in plants by activating the transcription factor PIF4 alongside genes involved in auxin biosynthesis and signalling, with phyB modulating BBX5 stability.
A bioRxiv preprint from Cold Spring Harbor Laboratory reports that ALS-associated SOD1 mutants bind and downregulate the TIM23 mitochondrial protein import complex in a yeast model, identifying a potential molecular mechanism linking SOD1 toxicity to organellar dysfunction.
A paired eDNA/eRNA study across coral reef and seagrass habitats near San Andres Island, Colombia, tests whether RNA-based metabarcoding provides a more temporally resolved snapshot of living marine communities.
Researchers present a flexible analytic estimation approach that substantially reduces computation time for Genomic Structural Equation Modelling, potentially enabling routine multivariate GWAS at biobank scale.
Researchers analysing human polymorphism data from gnomAD find that CpG mutation rates vary with flanking sequence in ways only partially explained by methylation, refining models of heritable mutation risk.
New NHS England data show that mobile scanning units deployed at supermarkets, sports stadiums and high streets have detected 10,678 lung cancers, more than three-quarters at stages one or two.
A new statistical framework described on bioRxiv allows plant breeders to select crossing pairs that are predicted to satisfy simultaneous requirements across genetically correlated target and essential traits.
The D4Z4caster assay uses targeted bisulfite sequencing of the D4Z4 repeat array to stratify individuals who may carry the epigenetic hallmarks of facioscapulohumeral muscular dystrophy.
A new computational tool, PEC, reconciles pedigree records against SNP-chip genotype data using linkage disequilibrium blocks and haplotype matching, offering improved accuracy and efficiency for livestock and research pedigrees.
A bioRxiv preprint identifies threonine 428 within a conserved TQ motif of the Saccharomyces cerevisiae Pch2 AAA+ ATPase as a key residue governing the protein's localisation and function during meiotic prophase I.
A Cancer Research UK commentary argues that structural and funding barriers are slowing the translation of population-level genetic and lifestyle risk data into cancer prevention strategies.
A new Cancer Research UK analysis argues that targeting the earliest detectable cancer-driving changes in high-risk individuals could prevent more cancers, but requires coordinated policy support to reach its potential.
Cancer Research UK analysis shows melanoma incidence has reached its highest recorded level in the UK, raising questions about prevention, surveillance, and the role of genetic risk factors.
A large-scale analysis finds beneficial mutations are more common than the neutral theory predicts, but environmental change may prevent them from fixing in populations.
Research in the short-lived turquoise killifish finds that collisions between ribosomes accumulate with age and may contribute to the protein clumps associated with neurodegenerative disease.
A bioRxiv preprint uses abstract multicellular development modelling to argue that increased ploidy — in both diploid hybrids and polyploids — reduces the impact of gene expression noise on cell fate determination, offering a mechanistic basis for heterosis.
A bioRxiv preprint uses a scalable 'one-pot' single-cell RNA-seq approach to map expression quantitative trait loci in yeast during acute salt stress and nutrient repletion, extending eQTL analysis from steady-state transcript levels into dynamic physiological transitions.
A bioRxiv preprint applies landscape genomics to Aedes albopictus, the tiger mosquito, finding that urban structure creates directional asymmetries in gene flow with implications for understanding the spread of dengue, Zika, and chikungunya vectors.
A late-stage trial of Otsuka's Voyxact showed statistically measurable but smaller-than-anticipated slowing of kidney function decline in patients with IgA nephropathy, an autoimmune kidney disease with a genetic component.
The WormFood CURE, a course-based undergraduate research programme, used a C. elegans multivulva phenotype assay to screen environmental bacteria for bioactive metabolites and found two Bacillus strains capable of suppressing ectopic Ras pathway activation.
A bioRxiv preprint combining ancient DNA genomics with a new interdisciplinary burial-rite database reports that cultural affiliation accounts for the majority of spatiotemporal variation in prehistoric mortuary practices.
A bioRxiv preprint from the CZ CELLxGENE team describes a submission model in which data contributors partner with dedicated curators, enabling the resource to grow rapidly while maintaining metadata quality for AI-scale analysis.
A bioRxiv preprint reports exploratory and confirmatory factor analysis of the EAGL measure in 2,708 US participants, introducing a knowledge comprehension subscale alongside standard subjective and objective knowledge components.
A bioRxiv preprint reports that targeting a doublesex locus generating dominant female-sterile alleles can accelerate population suppression by CRISPR-based gene drive, overcoming a key resistance mechanism.
Researchers examining mechanosignalling in zebrafish report that the transcriptional co-activator Yap1 is expressed transiently in muscle and notochord precursors and is required to prevent kyphoscoliosis during vertebral development.
A new computational system named PerturbFate tracks how diverse genetic mutations reshape cell fate over time, identifying convergent regulatory nodes that may represent targets shared across many cancer types.
A reconstructed evolutionary family tree of blood cells suggests that key features of the human immune system are inherited from unicellular life forms predating the emergence of animals.
A study integrating TCGA data with multiplex immunofluorescence identifies Z-DNA binding protein 1 as a hub gene correlating with cytotoxic T-cell infiltration in head and neck squamous cell carcinoma that resists PD-1 blockade.
Nusinersen and risdiplam will be routinely available on the NHS in England following an evidence-collection access scheme, giving families with spinal muscular atrophy long-term certainty.
A new multi-tissue transcriptome-wide association study fine-mapping method, published in PLOS Genetics, improves causal gene prioritisation for binary traits such as disease case-control outcomes.
A PLOS Genetics study uses a surrogate yeast system to characterise how mutations in the DHFR enzyme of Pneumocystis jirovecii confer resistance to trimethoprim and related antifolate drugs.
A pre-registered bioRxiv preprint replicating findings in 925 twin pairs identifies extinction learning rate — but not safety learning rate — as both heritable and associated with anxiety severity, pointing to a potential computational endophenotype.
A bioRxiv preprint describes TransCisPredict, a computational framework that incorporates both cis- and trans-variants to predict protein expression levels and enable proteome-wide association studies at biobank scale.
A bioRxiv preprint from Cold Spring Harbor Laboratory proposes that the chromosomal architectural protein Su(Hw) generates specificity in topologically associating domain boundary contacts in Drosophila, helping to explain how TADs form independently of loop extrusion.
A commentary in Nature Human Behaviour challenges widespread framing of polygenic risk scores as fixed biological traits, with implications for research communication and public understanding.
A PHG Foundation analysis highlights how genetic variants affecting red blood cell biology can cause HbA1c to misclassify diabetes risk, with disproportionate impact across ancestry groups.
A yeast-model preprint finds that elevated levels of Eaf1, a subunit of the NuA4 lysine acetyltransferase complex, rescue growth defects caused by the H3K36M oncohistone mutation via histone H4 tail acetylation.
A new Mendelian randomisation framework called MR2G addresses the challenge of reconstructing directional causal networks among multiple traits when relationship directions are unknown, including in the presence of feedback loops.
A large-scale study genetically characterising feline tumours has identified conserved cancer-driving mutations across cats, dogs and humans, including genes associated with aggressive breast cancers.
A bioRxiv preprint identifies rare protein-altering variants in the insulin/IGF-1 signalling and mTOR pathway among exceptionally long-lived individuals, with in vitro functional effects consistent with lifespan extension across species.
A new statistical approach estimates heritability separately within genetically defined subpopulations, addressing a known limitation of methods that return a single marginal estimate across diverse cohorts.
Reporting by STAT News describes an unprecedented reduction in experienced staff at the small HHS office responsible for overseeing the protection of research participants, raising concerns about its oversight capacity.
A preprint reports that antisense oligonucleotides designed to silence a specific dominant-negative ATAD3A variant can correct associated disease features in a zebrafish model, pointing towards a potential therapeutic strategy for this rare neurodevelopmental disorder.
A bioRxiv preprint describes a homozygous missense variant in MGME1 — a nuclear-encoded gene essential for mitochondrial DNA maintenance — identified in five affected individuals from unrelated South Indian families presenting with multi-systemic mitochondrial disease.
A preprint from Cold Spring Harbor Laboratory profiles nearly 2.7 million transcriptomes to characterise why some people living with HIV fail to recover immune function despite antiretroviral therapy.
Using family-based study designs including the Simons Simplex Collection, researchers have developed statistical methods to detect genomic regions where elevated reciprocal meiotic recombination may generate deleterious de novo haplotypes contributing to autism spectrum disorder.
A systematic comparison of circQTLs with sQTL and eQTL datasets suggests that genetic regulation of circular RNA production is mechanistically closer to splicing than to canonical transcriptional control.
A bioRxiv preprint reports that inhibiting the epigenetic regulator SMCHD1 can reactivate silenced maternal copies of genes in the Prader-Willi syndrome imprinted locus in cellular and animal models.
A PLOS Genetics study identifies an intronic variant in the Ferredoxin Reductase gene that generates a cryptic exon, causing a fatal autosomal recessive neurological disease in Quarter Horses.
A bioRxiv preprint introduces a method using early embryonic markers to screen for meiotic drivers — selfish genetic elements that bias their own transmission through gametogenesis — aiming to make detection more tractable in under-studied organisms.
Analysis of thousands of Japanese genomes reveals evidence for a distinct ancestral component linked to the ancient Emishi people, challenging the long-held dual-origins model of Japanese population history.
A bioRxiv preprint describes sustained preservation of retinal integrity and function following AAV8-delivered PEX1 gene therapy in a murine model of Zellweger spectrum disorder.
A five-laboratory evaluation published as a preprint on bioRxiv finds that an amplification-based Oxford Nanopore workflow can reliably detect clinically relevant variants in genes with architectures that challenge short-read methods.
Genome-wide data from 19 individuals on Hispaniola, including four from the earliest pre-Ceramic Lithic Age occupation, reveal a single ancestry source for early Caribbean populations and affinities to Central and South America.
A PLOS Genetics study finds that articular chondrocytes and skin fibroblasts — two cell types sharing a common developmental origin — accumulate somatic mutations through markedly different processes, with implications for understanding tissue ageing and disease.
A bioRxiv preprint reports that mice lacking both Cry1 and Cry2 circadian clock genes develop spontaneous emphysema-like pathology, linking circadian disruption to alveolar destruction and COPD-like disease.
Using MCPH1-deficient cells that retain compacted interphase chromosomes, researchers find that Xist RNA spreads to A1-sub-compartment-associated peripheral zones, implicating 3D genome organisation in dosage compensation.
Cancer Research UK reports on a laboratory study suggesting cells retain an epigenetic record of past inflammatory episodes, potentially explaining the elevated cancer risk associated with inflammatory bowel conditions.
Researchers describe a polygenic score strategy that exploits pleiotropy to map genetic contributions to clinical and pathological variation within Alzheimer's disease across multiple cohorts.
A bioRxiv preprint develops a general statistical approach to Hardy-Weinberg equilibrium inference at X-linked loci, addressing longstanding ambiguities that arise from sex-specific genotype structures and differing assumptions about allele frequency differences between sexes.
A census of the US research marmoset population, co-ordinated through the NIH Marmoset Coordinating Center, uncovers previously uncharacterised genomic diversity and population structure across laboratory colonies.
A bioRxiv preprint presents kinference, a tool designed to identify closely related pairs of individuals for Close-Kin Mark-Recapture analyses, a genomic approach increasingly used to estimate population size and demography in fish and wildlife management.
A bioRxiv preprint challenges a core assumption of LD Score Regression, the field's most widely used tool for estimating whole-genome SNP heritability from GWAS summary statistics.
A commentary from the PHG Foundation argues that a recent UK Biobank data-exposure incident should inform the design of the forthcoming Health Data Research Service.
A bioRxiv preprint drawing on 27,308 participants from the Singapore Chinese Health Study reports genome-wide associations and regulatory mechanisms underlying blood pressure traits in an East Asian cohort.
A bioRxiv preprint investigates how genetic perturbations in meiotic double-strand break repair — particularly involving PRDM9 — cause extensive disruption to spermatogenesis in mammalian models.
A peer-reviewed theoretical study published in PLOS Genetics examines the evolutionary forces that maintain concentrated recombination hotspots across eukaryotes, with implications for understanding genetic diversity and genome stability.
An opinion piece in STAT News contends that obituary coverage of Craig Venter has reduced a complex institutional history to a misleadingly simple rivalry narrative.
Scientists at the University of Rochester report that transferring a gene responsible for high-molecular-weight hyaluronic acid production from naked mole rats into mice improved their health and extended lifespan in a laboratory model.
Theoretical work on bioRxiv extends population genetic models to describe how a sudden reduction in population size alters the exposure of deleterious recessive alleles to selection and the long-term trajectory of inbreeding depression.
A paper in Nature Medicine reports that Australia has passed legislation preventing life insurers from using genetic test results to discriminate against applicants — a significant regulatory development with implications for genetic testing uptake.
Researchers report that reduced TORC1 activity extends lifespan in the roundworm C. elegans partly by boosting production of dafachronic acid, a bile acid-like steroid hormone, implicating a conserved nuclear hormone receptor pathway.
Case reports published in Communications Medicine describe clinical use of the MEK inhibitor trametinib in two patients with multiple non-ossifying fibromas attributed to somatic mosaic KRAS mutations.
A bioRxiv preprint from Cold Spring Harbor Laboratory suggests the ω subunit of bacterial RNA polymerase regulates transcriptional processivity and helps resolve collisions with the replication machinery, challenging its traditional characterisation as a mere assembly chaperone.
A bioRxiv preprint uses rapid protein depletion to demonstrate that the TRMT6/61A methyltransferase complex installs a protective chemical mark on precursor tRNAs before processing, with loss triggering rapid degradation by the exonuclease XRN2.
A preprint on bioRxiv reports a semi-automated screen of nearly 1,000 whole-genome-sequenced worm strains that prioritises thousands of candidate genes influencing sleep behaviour following cellular injury.
Researchers publishing in PLOS Genetics find that more than 40% of GWAS loci remain unexplained by eQTL colocalisation analyses, and identify study design factors that determine where the gap is largest.
A bioRxiv preprint reports that the histone acetyltransferase RTT109 is necessary for the structural integrity of Polycomb Repressive Complex 2-silenced chromatin domains in the model fungus Neurospora crassa, independently of its canonical H3K56 acetylation activity.
Researchers report that Winner's Curse, weak instrument bias, and sample overlap can induce substantial biases in standard two-sample Mendelian randomisation analyses using UK Biobank data.
Researchers report that the histone acetyltransferase KAT6A is required for normal expression of developmental control genes in neural stem and progenitor cells, with implications for understanding Arboleda-Tham syndrome.
Researchers have developed a new genetic reporter assay in fission yeast that detects gross chromosomal rearrangements, identifying natural hotspots including inverted long terminal repeats.
A paper published in the European Journal of Human Genetics examines variation in the training, registration, and scope of practice of genetic counsellors across European countries and proposes steps towards harmonisation.
A Cancer Research UK analysis explores the host genetic, microbial, and environmental factors that determine why gastric adenocarcinoma develops in roughly 1% of people infected with H. pylori.
A review article in Nature Genetics surveys how ancient genomic data have transformed understanding of which genetic variants were favoured by natural selection across human prehistory.
Researchers studying genetic data from diverse African groups, including the Nama people, find evidence that modern humans evolved from multiple interconnected populations rather than a single ancestral source.
An author correction has been issued for the Nature Genetics paper identifying biallelic RNU4-2 variants as a cause of a recessive neurodevelopmental syndrome with distinct white matter changes.
Researchers report findings from opportunistic screening of healthy controls in an Australian biobank, examining the yield and implications of returning genomic results outside a clinical referral pathway.
About Genetic Current
Genetic Current is the news section of Evagene, an academic, research, and educational pedigree-modelling platform. Stories are AI-drafted summaries of items from trusted public sources, written for researchers, clinicians, educators, students, genealogists, and patients with an interest in genetics. Summaries are for educational and research purposes only and are not medical advice.
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