Article
Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.
Bioinformatics (Oxford, England) - 15 Jan 2015
Trubetskoy Vassily, Rodriguez Alex, Dave Uptal, Campbell Nicholas, Crawford Emily L, Cook Edwin H, Sutcliffe James S, Foster Ian, Madduri Ravi, Cox Nancy J, Davis Lea K
Abstract excerpt
MOTIVATION: The development of cost-effective next-generation sequencing methods has spurred the development of high-throughput bioinformatics tools for detection of sequence variation. With many disparate variant-calling algorithms available, investigators must ask, 'Which method is best for my data?' Machine learning research has shown that so-called ensemble methods that combine the output of multiple models...
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