Genetics & genomics
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3,279 studies
- Identifying, phasing, and structurally annotating sex chromosomes for genome assemblies using CBS-tools
- Utilizing single-cell data for per-cell type eQTL mapping in the human pancreas
- Genomic correlates of metastatic competence and progression in human melanoma
- Generation of a transgenic cephalopod
- A hydrogen-producing mitochondrion in an anaerobic eukaryotrophic rhizarian
- Innate immune stress pathway activation underlies heterochromatin dysfunction pathology
- Deconvolution of HIV-1 Mutational Signatures Reveals Dominant and Donor-Specific APOBEC3-Associated Mutagenesis Across Anatomical Compartments
- Graph-based pangenome of Venturia inaequalis, the apple scab fungus, reveals structural variants associated with population differentiation
- KLHL40 gene replacement therapy in severe nemaline myopathy improves survival and skeletal muscle function in a preclinical mouse model
- Pathogenic mutations in ATAD3A cause dysregulation of RagC/D-TFEB axis and disrupt lysosomal homeostasis
- Convergent evolutionary loss of chemosensory and blood-feeding pathways in non-blood-feeding mosquitoes
- Isoleucine absence from adult human hemoglobin is mirrored in mosquito proteomes and limits malaria parasite growth
- Discovery of two potential new species and two novel bat-coronavirus subgenera (Phyllacovirus and Phyllobecovirus) in the Neotropics
- BaseCamp --- An Agentic AI Framework for Automating DNA Sequencing Data Pipelines
- Motif-Vocab: StatisticallyCalibrated Transcription-Factor-Identity Tokenization forGenomic Language Models
- BreCol: Benchmarking Classical and Deep-Learning Methods for Microbiome-Based Cancer Detection
- Diagnostic Utility of Peripheral Blood MYD88 L265P Testing in Vitreoretinal Lymphoma.
- Craniofacial Morphology and Cephalometric Analysis of Children with Tall Stature and Overgrowth Due to Molecular Genetic Etiology: A Scoping Review.
- Venom Before Specialisation? A Layered Assessment of Early Venom Evolution in Lizards and Snakes.
- Beyond the Embryo: Rethinking the Genetics of Recurrent Implantation Failure in the PGT-A Era
- A Frozen Plant DNA Language Model for Computational Prioritization and Functional Annotation of Melon (Cucumis melo) Variants
- Long-Term Experience in the Molecular Genetic Diagnosis of Friedreich Ataxia in the Russian Federation
- Near-Full-Length Hepatitis B Virus Genomes Isolated from Cerebrospinal Fluid of People Living with HIV and Cryptococcal Meningitis in Botswana
- Reduced Sperm Counts in Mice with Dmd Exon 51 Frameshift Mutations
- A Cost-Effective, Kit-Free Method for Extracting Nuclear and Mitochondrial DNA From Low-Abundance Cells in Urine Samples.