Genetics & Genomics · Life Sciences
Genomics
The newest papers in Genomics that ReadSearch has read, newest first. Each links to its own page, with its authors, date, where it was published and the original.
54 papers, from 31 August 2026 to 5 November 2026: 44 arXiv preprints, 5 bioRxiv preprints and 5 OpenAlex records.
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Newest papers
MUSS: A Multi-scale and Sequence-based Model for Single-cell Gene Regulation
Modeling gene regulation in single cells requires jointly representing DNA sequence, chromatin accessibility, and gene expression across regulatory scales.Reclassification Is All You Missed: Surfacing Variant Reinterpretation Need in Online Health Communities at Population Scale
Genetic variants are routinely reclassified in ClinVar after a patient is tested, sometimes from uncertain to pathogenic, yet patient recontact is inconsistent, with no clear duty and responsibility…An endogenous retrovirus insertion disrupting bovine ALKBH8 causes a failure-to-thrive syndrome with immunodeficiency associated with juvenile mortality in Brown Swiss cattle
The Brown Swiss (BS) cattle breed is one of the major Swiss dairy breeds.Unprecedented urban freshwater microviral survey highlights shift from sewage to river water communities
Microviruses are abundant yet still poorly resolved components of virosphere, particularly across urban freshwater continua.Benchmarking DNA Foundation Models: Biological Blind Spots in Evo2 Variant-Effect Prediction
DNA foundation models such as Evo2 and DNABERT-2 show promise for variant-effect prediction (VEP), yet rigorous benchmarks assessing their ability to capture established biological constraints…Urban enrichment of molestus ancestry and opposing temperature clines in a metropolitan Culex pipiens hybrid zone
Hybridization between ecologically distinct lineages can fuel rapid adaptation when introgressed alleles are locally favored.Local chromatin, 3D genome folding and transposon cargo shape Sleeping Beauty transposition
The cut-and-paste DNA transposon Sleeping Beauty (SB) is widely used for genome engineering, mutagenesis and gene delivery.HistoTx: Early fusion of H&E images and spatial transcriptomics at varying spatial transcriptomics resolution with self-supervised learning
Spatial transcriptomics maps gene expression across tissue sections and, when integrated with whole slide images, jointly captures both morphological architecture and molecular activity to provide a…BEND 2.0: Benchmarking the Capabilities Needed to Design DNA
Genomic foundation models are increasingly used to propose DNA sequences and edits.An auditable agentic pipeline for variant-to-gene prioritisation, validated against orthogonal functional evidence
Assigning GWAS variants to causal genes requires evidence from multiple resources.BIOTRAM: Biochemistry-informed Transformer for Relative Abundance via Metabarcoding
Arthropod monitoring at scale begins with metabarcoding of bulk samples: trap collections of hundreds to thousands of specimens processed as one unit, extraction of DNA from the bulked specimens…Locality-Controlled Out-of-Distribution Guidance for Robust Regulatory DNA Sequence Design
Designing regulatory DNA sequences for targeted gene-expression control is an important challenge.Advancing Clinical Genomic Analysis with a Skill-Centred Agent
Clinical genomic analysis requires experts to integrate evolving guidelines, databases, and computational evidence.Localizing predictive concepts encoded in neural representations via hierarchical testing
Understanding which regulatory sequence motifs a genomic deep learning model has learned, with statistical error guarantees, is essential for trusting its use in downstream tasks such as variant…ACOR: incremental evidence accumulation towards real-time DNA storage reconstruction
DNA offers high-density, durable storage by encoding digital information into synthetic strands and retrieving it through sequencing.Evaluating and improving AI agents for sequencing protocol understanding
Existing scientific-agent benchmarks rarely evaluate whether agents can reconstruct the exact molecular structures and generation workflows specified by sequencing protocols, a capability critical…Enhancing Clinical Classifier Robustness with Deep Representation Learning Based OOD Detection on DNA Methylation Data
DNA methylation (DNAM) array-based tumor classification is a powerful clinical diagnostic tool, but models trained on fixed reference cohorts can produce faulty predictions for tumor types not…HELICS: Biobank-scale Conditional Synthetic Genome Generation via Latent Flow Matching
Individual-level genotype data underpin genetic discovery, disease-risk modeling, and therapeutic development, yet many critical settings remain data-limited, including underrepresented ancestries…BARRR: Bidimensional Augmented Reduced Rank Regression for Multi-View Multi-Cohort Data
Bidimensional data integration across multiple cohorts (i.e., sample groups) and views (i.e., sources or modalities) is crucial in biomedical research to derive holistic insights from heterogeneous…HyperTaxa: Multiscale Genome Representations for Generalized Microbial Taxonomic Inference
Reliable microbial taxonomic inference is challenged by the rapid growth of newly sequenced organisms and incomplete reference coverage.