gnomAD cohort

Aliases

Genome Aggregation Database

No related entities found.

Mentioned in (28)

Papers in which this entity is mentioned.

• Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types. (2026)
• Mapping the genetic landscape across 14 psychiatric disorders. (2026)
• Specificity, length and luck drive gene rankings in association studies. (2026)
• MutBERT: probabilistic genome representation improves genomics foundation models. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Transcription start sites experience a high influx of heritable variants fueled by early development. (2025)
• Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. (2024)
• MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis. (2022)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• AFA: Ancestry-specific allele frequency estimation in admixed populations: The Hispanic Community Health Study/Study of Latinos. (2022)
• Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. (2022)
• Principal Component Analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated. (2022)
• Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (2022)
• Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
• Rapid genotype imputation from sequence with reference panels. (2021)
• Best practices for variant calling in clinical sequencing. (2020)
• Structural variation in the sequencing era. (2020)
• The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
• Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
• Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
• CHASMplus Reveals the Scope of Somatic Missense Mutations Driving Human Cancers. (2019)
• The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. (2019)
• The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)

Merged raw entities (2)

All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.