Article
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Genome biology - 1 Jan 2003
Cheung Joseph, Estivill Xavier, Khaja Razi, MacDonald Jeffrey R, Lau Ken, Tsui Lap-Chee, Scherer Stephen W
Abstract excerpt
BACKGROUND: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome. We have developed rapid computational heuristics based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome assemblies. RESULTS:...
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