Article
Variant priorization and analysis incorporating problematic regions of the genome.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2014
Patwardhan Anil, Clark Michael, Morgan Alex, Chervitz Stephen, Pratt Mark, Bartha Gabor, Chandratillake Gemma, Garcia Sarah, Leng Nan, Chen Richard
Abstract excerpt
In case-control studies of rare Mendelian disorders and complex diseases, the power to detect variant and gene-level associations of a given effect size is limited by the size of the study sample. Paradoxically, low statistical power may increase the likelihood that a statistically significant finding is also a false positive. The prioritization of variants based on call quality, putative effects on protein...
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