Genetics & genomics
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3,226 studies
- Genetic Liability to Psychiatric Disorder and Risk of Musculoskeletal Diseases: A Bidirectional Mendelian Randomization Study
- Mosaic RASopathies: comprehensive genetic and clinicopathological analysis for diagnosis and management
- Case Report: Smith-Magenis syndrome with bilateral high-grade vesicoureteral reflux, hypothyroidism, and seizure in infancy
- Genotype-specific molecular and functional trajectories in NGLY1 deficiency: a comparative multi-omics study of patient-derived iPSC neurons
- Harness-Driven Agentic Operation of Optical Pooled Screen Analysis
- Panoramic modelling of single-cell transcriptomes at scale with CellNet
- OmicsBench: a long-horizon multi-turn benchmark of AI agents on research-study-scale bioinformatics
- Epigenomic heterogeneity and spatial organization during human reprogramming
- Chromosome-level genome assembly and transcriptome resource for the medicinal leech Hirudo verbana
- PETRO enables robust estimation of on-target perturbation effects in Perturb-seq
- Integrated Multiomics Reveals Intergenerational Brain Sensory System Remodeling Induced by Parental Intermittent Fasting
- Leveraging synthetic environmental covariates to explore crop genotype by environment interactions
- Hybrid Drosophila genomes rapidly purge minority ancestry but repeatedly retain selected regions
- Distributed AI agents enable comprehensive discovery of biological insights at scale
- Chromosome-level genome assembly of Falcataria falcata provides insights into ancient polyploidy and duplicate gene evolution in Fabaceae
- SF3B1 mutation generates novel peptides from long non-coding RNAs
- Navigating the rapidly evolving landscape of sequencing-based spatial transcriptomics technologies: a comprehensive multi-platform benchmark
- Base Editing as a Therapeutic Strategy for Autosomal Dominant Tubulointerstitial Kidney Disease caused by Pathogenic UMOD Variants
- A relational architecture of the human genome
- Analysis of single nucleotide substitution in CYP21A2 gene using Alphagenome
- Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series.
- Discordant Chloroplast and Nuclear Divergence Among Eight Rubus crataegifolius (Rosaceae) Cultivars.
- The High-Amylose Maize Line GEMS-0067 Is Associated with an Intron 8 Insertion in Sbe1a, Altered Native PAGE Zymogram Patterns, and Development of PCR Markers for Breeding Applications.
- Anticipating the Next Recorded Bacterial Hosts of Plasmid-Borne Antimicrobial Resistance Genes: A Temporal Graph Analysis of Plasmid and Surveillance Data.
- Phenotypic Evidence for the Reclassification of the RYR1 p.(Glu4410Asp) Variant: From Uncertain Significance to Likely Benign.