Concepedia

Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions

Kathleen A. Clark, Andrew Paquette, Kayoko Tao, Russell Bell, Julie L. Boyle, Judith Rosenthal, Angela K. Snow, Alex W Stark, Bryony A. Thompson, Joshua Unger,

The American Journal of Human Genetics · 2022 · 19 citations · 39 references

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39

R: A Language and Environment for Statistical Computing

R Core Team · 2000 · 353K citations · Full text

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Maximum Likelihood from Incomplete Data Via the <i>EM</i> Algorithm

A. P. Dempster, N. M. Laird, Donald B. Rubin · Journal of the Royal Statistical Society Series B (Statistical Methodology) · 1977 · 49.7K citations

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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

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FLASH: fast length adjustment of short reads to improve genome assemblies

Tanja Magoč, Steven L. Salzberg · Bioinformatics · 2011 · 15.7K citations · Full text

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

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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