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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha: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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