Article
BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.
BMC medical genomics - 1 Jan 2013
Moore Carrie B, Wallace John R, Frase Alex T, Pendergrass Sarah A, Ritchie Marylyn D
Abstract excerpt
BACKGROUND: With the recent decreasing cost of genome sequence data, there has been increasing interest in rare variants and methods to detect their association to disease. We developed BioBin, a flexible collapsing method inspired by biological knowledge that can be used to automate the binning of low frequency variants for association testing. We also built the Library of Knowledge Integration (LOKI), a...
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