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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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Detalles Bibliográficos
Autores principales: Lo, Yancy, Kang, Hyun M, Nelson, Matthew R, Othman, Mohammad I, Chissoe, Stephanie L, Ehm, Margaret G, Abecasis, Gonçalo R, Zöllner, Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359451/
https://www.ncbi.nlm.nih.gov/pubmed/25884587
http://dx.doi.org/10.1186/s12859-015-0489-0