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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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Veröffentlicht in:BMC Bioinformatics
Hauptverfasser: Lo, Yancy, Kang, Hyun M, Nelson, Matthew R, Othman, Mohammad I, Chissoe, Stephanie L, Ehm, Margaret G, Abecasis, Gonçalo R, Zöllner, Sebastian
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2015
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Online Zugang: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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