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• A multi-tissue epigenomic atlas links the sheep non-coding genome to domestication and complex traits
  Non-coding regulatory variation drives complex traits, domestication, and evolutionary adaptation, yet the sheep genome lacks high-resolution functional annotation. Here we present SheepEpimap, a multi-tissue regulatory atlas harmonizing 516 CUT&Tag histone mo…
  preprints 2026 置信度 0.74
• From Recognition to Reimbursement: An Assessment of State Medicaid Coverage Policies for Genetic Counselors and a Path Forward
  preprints 2026 置信度 0.74
• CRISPR/Cas12a-mediated allele engineering of <i>SmAPRR2</i> and <i>SmGLK2</i> reveals complementary control of fruit peel and flesh chlorophyll pigmentation in eggplant
  Eggplant ( Solanum melongena L.) displays extensive fruit color diversity, in which chlorophyll-related pigmentation contributes to both external appearance and market value. Previous genetic studies identified SmAPRR2 and SmGLK2 as major candidate genes contr…
  preprints 2026 置信度 0.74
• Foraging movements rather than migrations drive avian influenza (HPAIV H5N1) dynamics in Antarctic seabirds
  preprints 2026 置信度 0.74
• OneGenome-Rice (OGR): A genomic foundation model for rice
  preprints 2026 置信度 0.74
• Emerging Use of Agentic AI Systems Across Genomics and Transcriptomics Domains: a Systematic Review
  Abstract Background Genomics and transcriptomics workflows require coordinated use of multiple specialized tools, creating technical barriers for many domain scientists. Large language models (LLMs) have shown promise for supporting bioinformatics tasks, but s…
  preprints 2026 置信度 0.74
• Harnessing Genomic and Bioinformatics for Surveillance of Pathogens in Africa: A Scoping Review of Existing Training and Gaps in Training
  preprints 2025 置信度 0.74
• Dengue virus in Solomon Islands 2023-2025: a whole genome surveillance study
  preprints 2026 置信度 0.74
• Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library
  RNA sequencing (RNA-Seq) is increasingly used alongside exome and genome sequencing to identify causal variants underlying rare Mendelian disorders. We present short-read RNA-Seq data from 5,412 individuals with a diverse range of rare disorders recruited to G…
  preprints 2026 置信度 0.74
• Integrated Epidemiologic and Genomic Surveillance of Carbapenemase-Producing Enterobacterales in a Regional Healthcare Network
  preprints 2026 置信度 0.74
• Patient and public involvement and engagement in genomic preterm birth research: shaping study delivery and materials in the PRESTIGE-PTB study
  preprints 2026 置信度 0.74
• Whole-exome-based preconception carrier screening in Uzbekistan with targeted SMA, FMR1, and DMD assays: the first reported clinical program
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• OXA-181 transmission confounded by a stable IncX3 plasmid
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• Population genomics, resistome and plasmidome of invasive Klebsiella pneumoniae isolates in adults hospitalised in Johannesburg, South Africa
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• Life in sediments fosters ‘sexual’ speciation in <i>Shewanella baltica</i>
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• Diagnostic yield and clinical predictors of whole-exome sequencing in Thai children with developmental and epileptic encephalopathy and pharmacoresistant epilepsy: A prospective cohort study
  preprints 2026 置信度 0.74
• Heterozygous germline <i>MSH3</i> mutations, and probably <i>MLH3</i> mutations, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk
  preprints 2026 置信度 0.74
• Human Dicer1 hotspot mutation induces both loss and gain of miRNA function
  preprints 2025 置信度 0.74
• Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function
  preprints 2026 置信度 0.74
• “A Market-Based Virus Monitoring Strategy Complementary to Epidemiological Surveillance in Urban Settings”
  preprints 2025 置信度 0.74
• CanVar-UK: an online data platform supporting collaborative diagnostic interpretation of germline variants in cancer susceptibility genes
  preprints 2026 置信度 0.74
• Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium
  RNA sequencing (RNA-seq) provides a powerful complement to DNA sequencing for uncovering pathogenic defects affecting gene expression and splicing in individuals with genetically undiagnosed rare disorders. However, as large rare disease consortia adopt RNA-se…
  preprints 2026 置信度 0.74
• Traveler-based Genomic Surveillance: A Scalable Approach to Early Pathogen Detection and Global Biosecurity
  preprints 2026 置信度 0.74
• Maternal gut and vaginal microbiota, alcohol use during pregnancy, and infant fetal alcohol spectrum disorder diagnosis in a South African cohort
  Background The detrimental impact of alcohol consumption on the gut microbiome is well-established. However, less is known about how alcohol exposure during pregnancy affects the maternal gut and vaginal microbiota, or how these microbial changes relate to sub…
  preprints 2026 置信度 0.74
• Genome-wide Identification of Immune Regulatory Networks: Comparative Performance of RNAi and CRISPRi in Host Factor Discovery
  preprints 2026 置信度 0.74
• Occurrence, genomic diversity, antimicrobial resistance and virulence profile of Campylobacter spp. from children, an abattoir and butcher shops in central Ethiopia
  preprints 2026 置信度 0.74
• ‘Truthsets’ for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)
  preprints 2026 置信度 0.74
• Evaluating the Value of Genomic and Immune Features for Survival Prediction Beyond MSI in Colorectal Cancer
  preprints 2026 置信度 0.74
• AI-qualizing Science
  preprints 2026 置信度 0.74
• CellTypeAI: Automated cell identification for scRNA-seq using local generative-AI
  Single-cell RNA sequencing (scRNA-seq) cell annotation techniques rely on the matching of known defining marker genes to a given cell population. However, these methods may lack robustness to dynamic fluctuations in cell marker expression between patients, sam…
  preprints 2026 置信度 0.74
• Quantifying the contribution of genetic variation to healthcare expenditure across diverse healthcare systems
  Healthcare systems must balance rising costs with the delivery of effective care, yet the factors underlying large inter-individual differences in healthcare expenditure remain incompletely understood. Here we examine how genome-wide genetic variation contribu…
  preprints 2026 置信度 0.74
• Gene model for the ortholog of <i>Ilp4</i> in <i>Drosophila simulans</i>
  preprints 2026 置信度 0.74
• Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network
  preprints 2026 置信度 0.74
• Haplotype-phased genomes of the barley leaf rust pathogen reveal evidence of repeat element expansion and somatic hybridization
  Barley leaf rust disease, caused by Puccinia hordei , leads to substantial yield losses and diminished malting quality of barley across temperate growing regions worldwide. To address the paucity of high-resolution genomic resources for this pathogen, we gener…
  preprints 2026 置信度 0.74
• A DNA Methylation–based Computational Framework for Tumour–microenvironment State Inference and Molecular Stratification
  preprints 2026 置信度 0.74
• ERGA-BGE genome of the Spanish moon moth Actias isabellae Graells, 1849: a nocturnal lepidopteran protected by the Habitats Directive
  preprints 2025 置信度 0.74
• Insights into the Datasets, Tools, and Training Needs of the AnVIL Community: 2024
  preprints 2025 置信度 0.74
• A Global Genomic Resource for Outcrossing <i>Arabidopsis lyrata</i> and <i>Arabidopsis arenosa</i>
  preprints 2026 置信度 0.74
• Clinical validation of large-scale functional assays: insights from 2,120 gene-truthset-assay evaluations
  preprints 2026 置信度 0.74
• Functional annotation of breast cancer risk loci implicates perturbation of <i>FILIP1L</i> expression in mammary fibroblasts in influencing breast cancer risk
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• MoGAAAP: A modular Snakemake workflow for automated genome assembly and annotation with quality assessment
  preprints 2025 置信度 0.74
• Interaction-based metabolomics identifies serum modifiers of the clinical expression of Alzheimer’s disease pathology
  preprints 2026 置信度 0.74
• Distinctive viral genome signatures are linked to repeated mammalian spillovers of H5N1 in North America
  preprints 2025 置信度 0.74
• The Power of Open Health Data: Impact, Representation, and Knowledge Diffusion
  preprints 2026 置信度 0.74
• Library preparation strategy critically impacts RNA virus sensitivity in clinical metagenomics
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• Detection of dengue virus serotype 2 in local Aedes aegypti populations, Madeira Island, Portugal, 2025
  preprints 2025 置信度 0.74
• Family functioning and psychiatric outcomes in children and young people with intellectual and developmental disabilities caused by rare genetic mutations
  Background A range of rare chromosomal micro-deletions or -duplications (Copy Number Variants - CNVs) are associated with high risk of neurodevelopmental and mental health conditions (ND-CNVs). There is great individual variability in outcomes, but we lack ins…
  preprints 2026 置信度 0.74
• Evolutionarily conserved transcriptional regulators control monoaminergic neuron development
  To what extent conserved developmental programs specify homologous cell types is a central question in biology. Here, we address this by focusing on reconstructing monoaminergic neuron development in Drosophila melanogaster embryo using time- resolved single-c…
  preprints 2025 置信度 0.74
• BTN3A2 protects against Escherichia coli infection: Insights from genome-wide association and Mendelian randomization
  preprints 2026 置信度 0.74
• A canary in the mind: A single baseline brain scan predicts adolescent depression and anxiety one year later
  Mood and anxiety disorders emerge predominantly in adolescence, yet they are usually identified only once symptoms have consolidated, when intervention can only be reactive. A marker that registers the loss of healthy brain function before symptoms crystallise…
  preprints 2026 置信度 0.74
• Gene model for the ortholog of <i>cnk</i> in <i>Drosophila erecta</i>
  preprints 2025 置信度 0.74
• Reproducibility of the evaluation of genetic variant pathogenicity based on the animal variant classification guidelines
  preprints 2025 置信度 0.74
• FastSpeciesTree: Fast and Scalable Species tree Inference
  The generation of species trees from genomic data is an important step in understanding evolutionary relationships across the tree of life. With the increasing availability of genomic data, species tree inference methods which can easily and rapidly produce ac…
  preprints 2026 置信度 0.74
• Tracking cross-border transmission of Rwanda’s successful dominant rifampicin-resistant Mycobacterium tuberculosis clone using genomic markers
  preprints 2026 置信度 0.74
• Insights into the Datasets, Tools, and Training Needs of the AnVIL Community: 2024
  preprints 2025 置信度 0.74
• Interactions between inbreeding, fitness and the bacterial microbiome in <i>Aedes aegypti</i> mosquitoes
  preprints 2026 置信度 0.74
• AncientMetagenomeDir dating metadataset highlights need for standardised radiocarbon reporting in ancient DNA
  preprints 2026 置信度 0.74
• Kandinsky: enabling neighbourhood analysis of spatial omics data for functional insights on cell ecosystems
  preprints 2025 置信度 0.74
• A tool to evaluate the impact of lived experience involvement in research: the Brain and Genomics Hub <i>Impact Log</i> protocol
  preprints 2026 置信度 0.74
• The Evolutionary Dynamics and Regional Spread of Mpox in Africa: Insights from Multi-country Genomic Surveillance
  preprints 2026 置信度 0.74
• ERGA-BGE genome of the Spanish moon moth Actias isabellae Graells, 1849: a nocturnal lepidopteran protected by the Habitats Directive
  preprints 2025 置信度 0.74
• Atypical energy-related symptoms define biologically distinct subtypes of major depressive disorder
  ABSTRACT Major depressive disorder (MDD) is a complex psychiatric disorder, characterized by a range of mood, cognitive, and neurovegetative symptoms. Current diagnostic criteria treat opposite symptom directions as equivalent; weight gain or loss, and increas…
  preprints 2026 置信度 0.74
• First Whole-Genome Assembly of the Galápagos Petrel ( <i>Pterodroma phaeopygia</i> ) Using Oxford Nanopore Sequencing to Advance Conservation Genomics in a Critically Endangered Seabird
  preprints 2025 置信度 0.74
• Stringent proteogenomic discovery of novel small proteins in <i>Mycobacterium tuberculosis</i> clinical reference strains
  preprints 2026 置信度 0.74
• Reliability of H3K27M Detection Using a Commercially Available Blood-based Comprehensive Genomic Profiling Test in Patients with Diffuse Midline Gliomas: Analysis of the Nationwide C- CAT Database in Japan
  preprints 2025 置信度 0.74
• Novel clonal lineages of wheat stem rust in the Southern Cone of South America
  preprints 2025 置信度 0.74
• TaxonMatch: taxonomic integration and tree construction from heterogeneous biological databases
  preprints 2026 置信度 0.74
• <i>PALM3</i> and hearing loss: a potential dual diagnosis interfering with novel gene discovery
  ABSTRACT Hereditary hearing loss is highly genetically heterogeneous, with emerging overlap between genes implicated in early-onset and age-related hearing loss. We report a consanguineous family with autosomal recessive, non-syndromic hearing loss in which th…
  preprints 2026 置信度 0.74
• Imported malaria predominates in near-elimination settings in Southwestern Uganda
  preprints 2026 置信度 0.74
• Causal single-cell RNA-seq simulation, in silico perturbation, and GRN inference benchmarking using GRouNdGAN-Toolkit
  preprints 2025 置信度 0.74
• Contexts, Facilitators, and Barriers to Integrating Portable Genomics for Outbreak Response in Coastal Kenya: A Qualitative Analysis of Participatory Stakeholder Discussions
  preprints 2025 置信度 0.74
• Cajal-Retzius fate specification is disrupted by constitutive activation of β-Catenin in hem progenitors
  preprints 2026 置信度 0.74
• De novo genome sequence assembly of the model algal endosymbiont Micractinium conductrix derived from its host Paramecium bursaria 186b
  preprints 2025 置信度 0.74
• Common genetic determinants of dynamic human in vivo immune response to <i>Mycobacterium tuberculosis</i>
  We investigated host-genetic TB susceptibility by expression quantitative trait loci (eQTL) analysis of the tuberculin skin test (TST) as a standardised challenge model of human in vivo TB immunology. Paired genotyping with 415 RNA-sequencing profiles from day…
  preprints 2026 置信度 0.74
• Distinct mechanisms of CNV formation at the human 15q13.3 locus
  preprints 2026 置信度 0.74
• Polygenic risk of cardiovascular disease manifests in cardiac structure and function
  preprints 2026 置信度 0.74
• Gene model for the ortholog of <i>foxo</i> in <i>Drosophila sechellia</i>
  preprints 2025 置信度 0.74
• Tracing the evolutionary histories of ultra-rare variants using variational dating of large ancestral recombination graphs
  preprints 2026 置信度 0.74
• <i>Panagrolaimus einhardi</i> sp. nov. and two sisters of fortune
  ABSTRACT Identifying nematodes to the species level is known to be complicated due to their morphological plasticity and limited number of taxonomically important characters. This is especially apparent in the genus Panagrolaimus , which comprises many cryptic…
  preprints 2026 置信度 0.74
• Ceftazidime–Avibactam Resistance in <i>Escherichia coli</i> Primarily Mediated by <i>bla</i> _NDM-5 with Emergent Ceftazidime–Avibactam/Aztreonam Resistance Linked to <i>bla</i> _CMY-42 Variants
  preprints 2025 置信度 0.74
• Genomic and Patient Epidemiology of <i>Streptococcus dysgalactiae</i> Subspecies <i>equisimilis</i> in Houston, Texas
  preprints 2025 置信度 0.74
• Systematic Review of Over A Century of Global Bioscience Research
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• No genetic evidence yet for hinnies at Mazongshan (400-160 BCE), northwestern China
  preprints 2026 置信度 0.74
• Combining polygenic risk scores to understand genetic liability to physical-mental health multimorbidity in UK BioBank
  preprints 2025 置信度 0.74
• Experiences of participant engagement from an African and Asian ancestry cohort during a clinical research study of lymph node responses to influenza immunisation in the United Kingdom
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• The landscape of structural variants in male infertility identified by optical genome mapping
  preprints 2026 置信度 0.74
• Comparative Analysis of Single-Nucleus and Single-Cell RNA Sequencing in Human Bone Marrow Mononuclear Cells: Methodological Insights and Trade-offs
  Bone marrow mononuclear cells (BMMCs) are a heterogeneous pool of hematopoietic progenitors and mature immune cells that collectively sustain hematopoiesis and coordinate immune responses. The bone marrow serves not only as the primary site for blood cell prod…
  preprints 2025 置信度 0.74
• Evolutionary emergence and preservation of microproteins encoded by upstream ORFs
  preprints 2026 置信度 0.74
• Evolutionary consequences of repeated loss of distyly in <i>Linum</i>
  preprints 2026 置信度 0.74
• Mapping the evolutionary path towards multi-drug resistance in the pandemic <i>Escherichia coli</i> ST131 lineage
  Escherichia coli sequence type (ST) 131 is the most widely studied genetic lineage of the species to date, originally identified in the early 2000s as an increasingly common cause of human urinary tract and bloodstream infections worldwide. This lineage is sub…
  preprints 2025 置信度 0.74
• Whole-Genome Population Genomics Reveals Lineage Structure and Adaptive Potential of <i>Philaenus spumarius</i> , the Principal Vector of <i>Xylella fastidiosa</i> in Europe
  ABSTRACT Philaenus spumarius (L.), the meadow spittlebug, is the principal European vector of Xylella fastidiosa . This xylem-feeding insect has a broad host range, ecological plasticity, and mobility, making it an efficient vector across diverse landscapes. Y…
  preprints 2025 置信度 0.74
• Vertical inheritance and loss-driven evolution of secretion systems in the bee gut microbiota
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• A scoping review of horizon scanning approaches used to identify emerging research methods
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• KCFtools: Rapid alignment-free method for introgression screening and GWAS using k-mer profiles
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• SpliceUp: Predicting <i>SF3B1</i> mutations in individual cells via aberrant splice site activation from scRNA-seq data
  preprints 2025 置信度 0.74
• CLIMADE Dashboard: an Interactive Tool for Tracking Arboviral Variants in near Real-Time
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• GLADE: Accurate inference of Gains, Losses, Ancestral genomes, and Duplication Events for comparative genomics
  preprints 2026 置信度 0.74
• An Organotypic Oral Squamous Cell Carcinoma Model Recapitulates Epithelial-Stromal Complexity at Single-cell Resolution and Reveals Matrix-derived Signalling as a Therapeutic Target
  ABSTRACT Three-dimensional (3D) organotypic cultures recapitulate key structural features of oral tumours and provide controlled, ethical, and reproducible research platforms. However, their ability to faithfully recapitulate in vivo tissue composition and the…
  preprints 2026 置信度 0.74
• Weighted sliced inverse regression for scalable supervised dimensionality reduction of spatial transcriptomics data
  With the dramatic take-up of spatially resolved transcriptomics biotechnologies, performing spatially-aware analysis of the resulting data is crucial to maximise advances in biological understanding. Dimensionality reduction is a first step in almost any analy…
  preprints 2025 置信度 0.74
• United States stakeholder insights on genetic testing for equine health and breeding
  preprints 2025 置信度 0.74