Translational Diagnostics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

Yongwook Choi, Agnes P. Chan · Bioinformatics · 2015 · 2.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

VarSome: the human genomic variant search engine

Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris et al. · Bioinformatics · 2018 · 1.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +14