Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text

ClinVar: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.2K citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +21

Evaluating Effect Size in Psychological Research: Sense and Nonsense

David C. Funder, Daniel J. Ozer · Advances in Methods and Practices in Psychological Science · 2019 · 3K citations · Full text

Effect Size, Social Psychology, Individual Differences +18

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 2.8K citations · Full text

Genome-wide Association Study, Allelic Variant, Genotype-phenotype Association +14

The “All of Us” Research Program

New England Journal of Medicine · 2019 · 2.1K citations · Full text

Observational Cohort Studies, Education, Health Disparities +22