Concepedia

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James Robinson,

Nature Genetics · 2013 · 316 citations · 29 references

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29

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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PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K 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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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

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