This article is part of a special issue on exome sequencing, and has been made free to access thanks to support from Roche Nimblegen.
Computational and statistical approaches to analyzing variants identified by exome sequencing
- Equal contributors
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
Genome Biology 2011, 12:227 doi:10.1186/gb-2011-12-9-227Published: 14 September 2011
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.