Genetics & genomics
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3,213 studies
- Somatic variant detection using an individual-specific pangenome reference: a case study of a pediatric acute myeloid leukemia patient
- Anaesthetic Considerations for Twin Delivery in a Patient With Osteogenesis Imperfecta Type III: A Case Report.
- Comprehensive Clinical, Neuroradiologic, and Oral Health of 23 Individuals With MOPDII: Molecular Spectrum and Phenotypic Features.
- Integrative Multiomics Mendelian Randomization Prioritizes Endoplasmic Reticulum Stress-Related Genes Associated With Gastric Cancer Risk.
- A Dual-parameter 3D Assessment of Alveolar Cleft Bone Grafts: Integrating Bone Density and Modified Volumetry.
- Evaluating and improving AI agents for sequencing protocol understanding
- Reading Between the Reads: A Decade On, Revisiting Sequencing Protocol Annotation in the Sequence Read Archive
- ACOR: incremental evidence accumulation towards real-time DNA storage reconstruction
- Pedigree-tracking improved population monitoring of recessive disease-causing alleles in pedigreed canine populations
- MutQA: A Cross-Validated Q&A Dataset for Genetic Mutations
- A 4,000-year genomic history of Bantu speakers from the Congo rainforest
- An Interactive Bidirectional De Novo Protein Design System
- De novo Protein Generating Model via Structure-Aware Graph Neural Networks
- Engineered Tn5 Variants Enhance CUT&Tag Fidelity for Transcription Factors
- Iterative Refinement for Structural Optimization of De Novo Protein Sequences
- Mutation breeding for quantitative traits in the era of genomic selection
- You got me (un)hooked: Repair of DNA crosslinks in bacteria
- Positional cranial deformation and domain-specific neurodevelopment in small-for-gestational-age infants: a cross-sectional study
- Novel MBTPS1 variant associated with Kondo-Fu syndrome with expanded skeletal manifestations and a distinctive biochemical profile
- Distinct patterns of vascular failure in COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome
- Interindividual Variability in Functional Food Clinical Trials: Statistical Challenges, Responder Phenotypes, and Implications for Precision Nutrition
- Chloroplast Genome Characterization and Phylogenetic Implications of Reyesia and Salpiglossis (Salpiglossideae, Solanaceae)
- Experience Improves Spatial Foraging Performance in a Complex Environment in Heliconius Butterflies
- Lost and Found: Western Honey Bee ( Apis mellifera ) Matrix Metalloproteinase 1
- The chromosome-level annotated reference genome MakAnk1.0 reveals a putative signature of selection for long horns and provides insights into the demographic history of Ankole cattle