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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Detalles Bibliográficos
Autores principales: Hwang, Sohyun, Kim, Eiru, Lee, Insuk, Marcotte, Edward M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671096/
https://www.ncbi.nlm.nih.gov/pubmed/26639839
http://dx.doi.org/10.1038/srep17875

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671096/
https://www.ncbi.nlm.nih.gov/pubmed/26639839
http://dx.doi.org/10.1038/srep17875

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