Comparing variant calling algorithms for target-exon sequencing in a large sample

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 benef...

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Udgivet i:BMC Bioinformatics
Main Authors: Lo, Yancy, Kang, Hyun M, Nelson, Matthew R, Othman, Mohammad I, Chissoe, Stephanie L, Ehm, Margaret G, Abecasis, Gonçalo R, Zöllner, Sebastian
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4359451/
https://ncbi.nlm.nih.gov/pubmed/25884587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-015-0489-0
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