Concepedia

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha, Elise Robinson, Stephan Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath, Jack A. Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby,

Nature Genetics · 2014 · 1.1K citations · 24 references

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References

24

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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Adaptive protein evolution at the Adh locus in Drosophila

John H. McDonald, Martin Kreitman · Nature · 1991 · 3.4K citations

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