Article
Prediction of functional regulatory SNPs in monogenic and complex disease.
Human mutation - 1 Oct 2011
Zhao Yiqiang, Clark Wyatt T, Mort Matthew, Cooper David N, Radivojac Predrag, Mooney Sean D
Abstract excerpt
Next-generation sequencing (NGS) technologies are yielding ever higher volumes of human genome sequence data. Given this large amount of data, it has become both a possibility and a priority to determine how disease-causing single nucleotide polymorphisms (SNPs) detected within gene regulatory regions (rSNPs) exert their effects on gene expression. Recently, several studies have explored whether disease-causing...
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