Open AccessExome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
Author(s) -
J. Fah Sathirapongsasuti,
Hane Lee,
Basil A. Horst,
Georg Brunner,
Alistair J. Cochran,
Scott W. Binder,
John Quackenbush,
Stanley F. Nelson
Publication year - 2011
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btr462
Subject(s) - loss of heterozygosity , exome , exome sequencing , copy number variation , computational biology , biology , genetics , confounding , computer science , allele , mutation , statistics , genome , gene , mathematics
The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from exome sequencing data extends the utility of this powerful approach that has mainly been used for point or small insertion/deletion detection.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom