Genetic Current archive

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.

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.

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 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.

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 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.

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.

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.

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.

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.

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 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 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.

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 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.

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 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 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 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.

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.