Concepedia

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

Timothy O’Brien, Amiee Potter, Catherine C. Driscoll, Gregory Goh, John Letaw, Sarah McCabe, Jane Thanner, Arpita Kulkarni, Rossana Wong, Samuel Medica,

The American Journal of Human Genetics · 2023 · 14 citations · 42 references

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42

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Cutadapt removes adapter sequences from high-throughput sequencing reads

Marcel Martin · EMBnet journal · 2011 · 35.8K citations · Full text

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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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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K 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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