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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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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Hwang, Sohyun, Kim, Eiru, Lee, Insuk, Marcotte, Edward M.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
Sujets:
Accès en ligne: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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