Article
Comparing variant calling algorithms for target-exon sequencing in a large sample.
BMC bioinformatics - 7 Mar 2015
Lo Yancy, Kang Hyun M, Nelson Matthew R, Othman Mohammad I, Chissoe Stephanie L, Ehm Margaret G, Abecasis Gonçalo R, Zöllner Sebastian
Abstract excerpt
BACKGROUND: Sequencing studies of exonic regions aim to identify rare variants contributing to complex traits. With high coverage and large sample size, these studies tend to apply simple variant calling algorithms. However, coverage is often heterogeneous; sites with insufficient coverage may benefit from sophisticated calling algorithms used in low-coverage sequencing studies. We evaluate the potential benefits...
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