Genetic Current archive

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.

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.

The US Food and Drug Administration has reversed its earlier rejection and will re-examine Regenxbio's experimental gene therapy for Hunter syndrome, a rare and life-limiting childhood disorder.

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 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.

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.

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 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.

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 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.

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 new open-source R package consolidates multiple methods for estimating genetic liability from large pedigree registries, benchmarked against Nordic population data.

A STAT News opinion piece argues that recent technical progress in human embryo editing demands structured ethical debate before the science moves further ahead.

The world's first randomised trial of a multi-cancer early detection blood test did not meet its primary endpoint, though commentators argue the results carry important signals for the field of early-detection genomics.

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.

Phase 3 results for Revolution Medicines' daraxonrasib show a 60% reduction in risk of death compared with standard chemotherapy, marking the first practice-changing advance for KRAS-mutant pancreatic cancer.

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.

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.

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 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.

The antibody-drug conjugate mirvetuximab soravtansine has been added to the NHS England treatment portfolio for platinum-resistant ovarian cancer — the first new approved option in this setting in more than two decades.

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 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.

Daraxonrasib, a small molecule targeting KRAS, produced results described as practice-changing at ASCO 2026, offering a new approach to one of oncology's hardest tumours.

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.

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 bioRxiv preprint from 2026 proposes that astrocytes — not only neurons — may contribute to the pathophysiology of CDKL5 Deficiency Disorder, a rare developmental epileptic encephalopathy.

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.

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.

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.

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.

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.

The bispecific antibody ivonescimab, developed in China, showed a survival benefit in squamous cell lung cancer, though researchers called for follow-up in more diverse patient populations.

A trial presented at ASCO 2026 found that substantially reduced doses of nivolumab retained efficacy in head and neck squamous cell carcinoma, a finding with potential relevance to treatment access in lower-income settings.

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.

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.

The Supreme Court ruled unanimously that Hikma Pharmaceuticals did not infringe patents held by Amarin, in a decision with broad implications for generic drug manufacturers and skinny-label litigation.

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.

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.

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.

Researchers describe a quality-controlled pipeline for generating human induced pluripotent stem cell lines carrying multiple simultaneous gene knockouts, using cytosine base editor evoBE4max.

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.

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 specialist First Opinion piece in STAT News draws three lessons from the world's first randomised trial of a multi-cancer early detection blood test, which did not meet its primary endpoint.

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.

Following positive trial results reported at ASCO 2026, analysts and clinicians are examining how the KRAS(G12D) inhibitor daraxonrasib might be extended to other KRAS-driven tumour types.

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 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 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.

Additional reporting and commentary from ASCO 2026 consolidates the picture around Revolution Medicines' daraxonrasib, with coverage noting that demand from patients is already outpacing access to the investigational drug.

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.

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.

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.

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.

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 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.

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.

A bioRxiv preprint presents a chromatin accessibility and transcriptomic atlas of human dendritic cell development from haematopoietic stem cells, integrating GWAS data from immune-mediated diseases to pinpoint which DC subsets mediate inherited genetic 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.

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 bioRxiv preprint from Cold Spring Harbor Laboratory introduces the single mutation frequency spectrum, a revised approach to analysing rare allele data that accounts for identical-by-state variants arising from recurrent mutation events.

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 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.

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 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 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 new systematic review published in 2026 concludes that prostate-specific antigen blood testing likely reduces the risk of death from prostate cancer, though over-diagnosis and over-treatment remain concerns.

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.

A new study shows MYC protein recruits DNA-repair machinery at break sites, suggesting a mechanism by which tumours recover from chemotherapy and radiotherapy damage.

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.

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.

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.

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.