Article
Detection and characterization of novel sequence insertions using paired-end next-generation sequencing.
Bioinformatics (Oxford, England) - 15 May 2010
Hajirasouliha Iman, Hormozdiari Fereydoun, Alkan Can, Kidd Jeffrey M, Birol Inanc, Eichler Evan E, Sahinalp S Cenk
Abstract excerpt
MOTIVATION: In the past few years, human genome structural variation discovery has enjoyed increased attention from the genomics research community. Many studies were published to characterize short insertions, deletions, duplications and inversions, and associate copy number variants (CNVs) with disease. Detection of new sequence insertions requires sequence data, however, the 'detectable' sequence length with...
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