A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.3K 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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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Haplotype-based variant detection from short-read sequencing

Erik Garrison, Gábor Marth · arXiv (Cornell University) · 2012 · 4.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +17