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Title
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.
Authors
Sathirapongsasuti, Jarupon Fah; Lee, Hane; Horst, Basil A J; Brunner, Georg; Cochran, Alistair J; Binder, Scott; Quackenbush, John; Nelson, Stanley F
Abstract
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.