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Roche logoThis article is part of a special issue on exome sequencing, and has been made free to access thanks to support from Roche Nimblegen.

Highly Accessed Review

Computational and statistical approaches to analyzing variants identified by exome sequencing

Nathan O Stitziel12, Adam Kiezun23 and Shamil Sunyaev23*

Author affiliations

1 Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA

2 Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, MA 02142, USA

3 Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA

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Citation and License

Genome Biology 2011, 12:227  doi:10.1186/gb-2011-12-9-227

Published: 14 September 2011

Abstract

New sequencing technology has enabled the identification of thousands of single nucleotide polymorphisms in the exome, and many computational and statistical approaches to identify disease-association signals have emerged.