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, +9

Genetics in Medicine

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

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, +172

Nature

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper, +2

Nucleic Acids Research

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THE GENETIC BASIS OF EVOLUTIONARY CHANGE

Joseph Felsenstein

Evolution

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The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

Richard Fishel, Mary Kay Lescoe, Manchanahalli R. Satyanarayana Rao, +5

Cell

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

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver, +38

The American Journal of Human Genetics

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Predicting the functional impact of protein mutations: application to cancer genomics

Boris Reva, Yevgeniy Antipin, Chris Sander

Nucleic Acids Research

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UniRef clusters: a comprehensive and scalable alternative for improving sequence similarity searches

Barış Ethem Süzek, Yuqi Wang, Hongzhan Huang, +2

Bioinformatics

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia, Kathy Adelman, Sherri J. Bale, +14

Genetics in Medicine

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SIFT missense predictions for genomes

Robert Vaser, Swarnaseetha Adusumalli, Sim Ngak Leng, +2

Nature Protocols

Functional GenomicsMedicineGeneticsComputational GenomicsComputational Biology +6