Article
PolyPhred analysis software for mutation detection from fluorescence-based sequence data.
Current protocols in human genetics - 1 Oct 2008
Montgomery Kate T, Iartchouck Oleg, Li Li, Loomis Stephanie, Obourn Vanessa, Kucherlapati Raju
Abstract excerpt
The ability to search for genetic variants that may be related to human disease is one of the most exciting consequences of the availability of the sequence of the human genome. Large cohorts of individuals exhibiting certain phenotypes can be studied and candidate genes resequenced. However, the challenge of analyzing sequence data from many individuals with accuracy, speed, and economy is great. This unit...
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