Article
VarBin, a novel method for classifying true and false positive variants in NGS data.
BMC bioinformatics - 1 Jan 2013
Durtschi Jacob, Margraf Rebecca L, Coonrod Emily M, Mallempati Kalyan C, Voelkerding Karl V
Abstract excerpt
BACKGROUND: Variant discovery for rare genetic diseases using Illumina genome or exome sequencing involves screening of up to millions of variants to find only the one or few causative variant(s). Sequencing or alignment errors create "false positive" variants, which are often retained in the variant screening process. Methods to remove false positive variants often retain many false positive variants. This...
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