Article
Prioritizing regions of candidate genes for efficient mutation screening.
Human mutation - 1 Feb 2006
Braun Terry A, Shankar Suma P, Davis Steve, O'Leary Brian, Scheetz Todd E, Clark Abbot F, Sheffield Val C, Casavant Thomas L, Stone Edwin M
Abstract excerpt
The availability of the complete sequence of the human genome has dramatically facilitated the search for disease-causing sequence variations. In fact, the rate-limiting step has shifted from the discovery and characterization of candidate genes to the actual screening of human populations and the subsequent interpretation of observed variations. In this study we tested the hypothesis that some segments of...
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