Human genetics
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- Pleiotropic and Distributed Neuropsychiatric Effects of Neurodevelopmental Copy Number Variants in the All of Us Biobank
- Nasal and Nasopharyngeal Airway Obstruction in Neonates: A Pictorial Essay.
- Phenotypic and genetic characterization of different modes of lifetime nicotine use in the All of Us Research Program
- Rare copy number variation in Post-traumatic stress disorder using whole genome sequencing and biobank data
- Early identification of rare disease using deep phenotyping of electronic health records
- Factor XI(a) Inhibition in Secondary Stroke Prevention: On the Cusp of a New Anticoagulation Paradigm.
- Archaic ancestry inference in imputed ancient human genomes
- TorchGWAS2: Cost-Effective Phenome- and Genome-Wide Association Testing in Related Samples
- Mapping intronic mutational hotspots by in silico mutagenesis enables single antisense oligonucleotide correction of multiple variants
- P5 promoter-mediated incorporation explains REP/CAP manufacturing contaminants in patient liver after rAAV gene therapy
- Polygenic Risk and Genetic Predisposition in Post-Traumatic Epilepsy: A Framework for Risk Estimation
- Childhood Correlates of Genetic Propensity to Personality Traits
- Evaluation of AI-assisted summarisation of tertiary clinical genomics reports: results of the QNOMX-VHIR-CPSP-001 Phase 1 study
- Spatial profiling of the spleen in mouse and human myelofibrosis reveals complement-driven immune-stromal interactions as a therapeutic target
- Seven replicated genomic associations of myalgic encephalomyelitis/chronic fatigue syndrome: a biobank study
- Integrative Genetic and Single-Cell Analysis Reveals Macrophages as Key Mediators Linking Aging and Osteoporosis
- Mechanistic 5'UTR Variant Scoring Expands Rare Variant Discovery in the UK Biobank
- Estrogen interactions with breast cancer risk variants in regulatory DNA
- Molecular Diagnosis as a Probability of Necessity
- Multi-trait Polygenic Profiling and Survival Free of Dementia and Disability: Results from the Health and Retirement Study
- Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases
- The Presence and Percentage of Circulating Nucleated Red Blood Cells Reveal Distinct Characteristics in Adults With Sickle Cell Disease
- Thrombosis in individuals with high oxygen affinity hemoglobin‐associated erythrocytosis: A systematic review and analysis of a national cohort
- SGLT2 Inhibitors and Cardiovascular Outcomes in Patients With Fabry Disease: Observations From a Federated Research Network
- Intraoperative glucocorticoids confound surgical biopsy transcriptomics