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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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Bibliographic Details
Published in:Sci Rep
Main Authors: Hwang, Sohyun, Kim, Eiru, Lee, Insuk, Marcotte, Edward M.
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2015
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Online Access: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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