Keyword

gnomAD

Description: gnomAD is a public genomics resource aggregating and harmonizing human exome and genome sequencing data to support research on genetic variation.

Primary topic: Genomics and Rare Diseases (51%)

Related topic: Genomics and Rare Diseases (51%)

Wikidata ID: wiki/Q111264907

OpenAlex ID: keywords/gnomad

A structural variation reference for medical and population genetics

2020 · Ryan L. Collins, Harrison Brand, et al. · Nature · 1,033

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The UCSC Genome Browser database: 2019 update

2018 · Maximilian Haeussler, Ann S Zweig, et al. · Nucleic Acids Research · 877

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Variant interpretation using population databases: Lessons from gnomAD

2021 · Sanna Gudmundsson, Moriel Singer‐Berk, et al. · Human Mutation · 675

The UCSC Genome Browser database: 2025 update

2024 · Gerardo Perez, Galt P Barber, et al. · Nucleic Acids Research · 611

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CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

2023 · Max Schubach, Thorben Maass, et al. · Nucleic Acids Research · 447

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MutationTaster2021

2021 · Robin Steinhaus, Sebastian Proft, et al. · Nucleic Acids Research · 326

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Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing

2018 · Matthew B. Lanktree, Amirreza Haghighi, et al. · Journal of the American Society of Nephrology · 301

The UCSC Genome Browser database: 2022 update

2021 · Brian T Lee, Galt P Barber, et al. · Nucleic Acids Research · 273

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ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants

2018 · Najmeh Alirezaie, Kristin D. Kernohan, et al. · The American Journal of Human Genetics · 270

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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

2019 · Laurens Wiel, Coos Baakman, et al. · Human Mutation · 264

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The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis

2022 · William B Hannah, Bryce A Seifert, et al. · The Lancet Respiratory Medicine · 223

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

2019 · Shu Tadaka, Fumiki Katsuoka, et al. · Human Genome Variation · 183

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Transcript expression-aware annotation improves rare variant interpretation

2020 · Beryl B. Cummings, Konrad J. Karczewski, et al. · Nature · 180

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Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

2018 · Michael H. Guo, Lacey Plummer, et al. · The American Journal of Human Genetics · 175

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The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

2018 · Alice B. Popejoy, Deborah I. Ritter, et al. · Human Mutation · 172

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The evolution of dbSNP: 25 years of impact in genomic research

2024 · Lon Phan, Hua Zhang, et al. · Nucleic Acids Research · 160

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Mitochondrial DNA variation across 56,434 individuals in gnomAD

2022 · Kristen M. Laricchia, Nicole J. Lake, et al. · Genome Research · 149

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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

2020 · Qingbo Wang, Emma Pierce-Hoffman, et al. · Nature Communications · 147

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Exploring human genomic diversity with gnomAD

2020 · Linda Koch · Nature Reviews Genetics · 122

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases

2020 · Malwina Suszynska, Magdalena Ratajska, et al. · Journal of Ovarian Research · 120

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VarSite: Disease variants and protein structure

2019 · Roman A. Laskowski, James D. Stephenson, et al. · Protein Science · 117

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Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis

2018 · Kelvin C. de Andrade, Megan N. Frone, et al. · Human Mutation · 99

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

2020 · Roddy Walsh, Najim Lahrouchi, et al. · Genetics in Medicine · 98

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Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial

2021 · Sarah E. Hunt, Benjamin Moore, et al. · Human Mutation · 96

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

2020 · Carolin K Scriba, Sarah J Beecroft, et al. · Brain · 91

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Works count: 758

Citation count: 10,860