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Systematic comparison of variant calling pipelines using gold standard personal exome variants

The success of clinical genomics using next generation sequencing (NGS) requires the accurate and consistent identification of personal genome variants. Assorted variant calling methods have been developed, which show low concordance between their calls. Hence, a systematic comparison of the variant...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Hwang, Sohyun, Kim, Eiru, Lee, Insuk, Marcotte, Edward M.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4671096/
https://ncbi.nlm.nih.gov/pubmed/26639839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep17875
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