Concepedia

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

Joke Reumers, Peter De Rijk, Hui Zhao, Anthony Liekens, Dominiek Smeets, John J. Cleary, Peter Van Loo, Maarten Van Den Bossche, Kirsten Catthoor, Bernard Sabbe,

Nature Biotechnology · 2011 · 253 citations · 43 references

DOI

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43

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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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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Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K 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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Integrated genomic analyses of ovarian carcinoma

Debra Bell, Andrew Berchuck, Narciso Olvera et al. · Nature · 2011 · 8.2K citations · Full text

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