Get started
Keyword

ClinVar

Description: A public database linking human genetic variants with clinical interpretations, associated phenotypes, and supporting evidence.
Wikidata ID: wiki/Q20023123
OpenAlex ID: keywords/clinvar
ClinVar: improving access to variant interpretations and supporting evidence
2017 · Melissa J Landrum, Jennifer M Lee, et al. · Nucleic Acids Research · 4,167
PDF
ClinVar: public archive of relationships among sequence variation and human phenotype
2013 · Melissa J. Landrum, Jennifer M. Lee, et al. · Nucleic Acids Research · 3,502
PDF
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
2016 · Nilah M. Ioannidis, Joseph H. Rothstein, et al. · The American Journal of Human Genetics · 2,884
PDF
ClinVar: public archive of interpretations of clinically relevant variants
2015 · Melissa J. Landrum, Jennifer M. Lee, et al. · Nucleic Acids Research · 2,748
PDF
Database resources of the National Center for Biotechnology Information
2015 · NCBI Resource Coordinators · Nucleic Acids Research · 1,469
PDF
ClinVar: improvements to accessing data
2019 · Melissa J Landrum, Shanmuga Chitipiralla, et al. · Nucleic Acids Research · 991
PDF
Database resources of the National Center for Biotechnology Information
2020 · Eric W Sayers, Jeffrey Beck, et al. · Nucleic Acids Research · 962
The UCSC Genome Browser database: 2016 update
2015 · Matthew L. Speir, Ann S. Zweig, et al. · Nucleic Acids Research · 451
PDF
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
PDF
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
2019 · Jodie Ingles, Jennifer Goldstein, et al. · Circulation Genomic and Precision Medicine · 432
PDF
PnB Designer: a web application to design prime and base editor guide RNAs for animals and plants
2021 · Sebastian M. Siegner, Mehmet E. Karasu, et al. · BMC Bioinformatics · 431
PDF
Database resources of the National Center for Biotechnology Information in 2023
2022 · Eric W Sayers, Evan E Bolton, et al. · Nucleic Acids Research · 425
PDF
Genome-wide prediction of disease variant effects with a deep protein language model
2023 · Nadav Brandes, Grant Goldman, et al. · Nature Genetics · 421
PDF
Database resources of the National Center for Biotechnology Information
2013 · NCBI Resource Coordinators · Nucleic Acids Research · 384
PDF
Database resources of the National Center for Biotechnology Information
2023 · Eric W Sayers, Jeff Beck, et al. · Nucleic Acids Research · 378
PDF
High-depth African genomes inform human migration and health
2020 · Ananyo Choudhury, Shaun Aron, et al. · Nature · 357
PDF
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
2021 · Henrik Stranneheim, Kristina Lagerstedt-Robinson, et al. · Genome Medicine · 270
PDF
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
PDF
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains
2019 · Laurens Wiel, Coos Baakman, et al. · Human Mutation · 264
PDF
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
2021 · Cynthia A. James, Jan D.H. Jongbloed, et al. · Circulation Genomic and Precision Medicine · 236
PDF
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
2017 · Steven M. Harrison, Jill S. Dolinsky, et al. · Genetics in Medicine · 236
PDF
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
2017 · Rajarshi Ghosh, Ninad Oak, et al. · Genome biology · 232
PDF
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
2017 · Yuya Kobayashi, Shan Yang, et al. · Genome Medicine · 232
PDF
Performance evaluation of pathogenicity-computation methods for missense variants
2018 · Jinchen Li, Tingting Zhao, et al. · Nucleic Acids Research · 218
PDF
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
2019 · Caroline F. Wright, Ben West, et al. · The American Journal of Human Genetics · 212
PDF
Works count: 1,694
Citation count: 35,310
Year
Topic
Type