Article
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Nucleic acids research - 1 Jan 2011
Wang Wenyi, Shen Peidong, Thiyagarajan Sreedevi, Lin Shengrong, Palm Curtis, Horvath Rita, Klopstock Thomas, Cutler David, Pique Lynn, Schrijver Iris, Davis Ronald W, Mindrinos Michael, Speed Terence P, Scharfe Curt
Abstract excerpt
A common goal in the discovery of rare functional DNA variants via medical resequencing is to incur a relatively lower proportion of false positive base-calls. We developed a novel statistical method for resequencing arrays (SRMA, sequence robust multi-array analysis) to increase the accuracy of detecting rare variants and reduce the costs in subsequent sequence verifications required in medical applications....
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