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A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference

High-throughput sequencing, especially of exomes, is a popular diagnostic tool, but it is difficult to determine which tools are the best at analyzing this data. In this study, we use the NIST Genome in a Bottle results as a novel resource for validation of our exome analysis pipeline. We use six di...

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Dades bibliogràfiques
Publicat a:Biomed Res Int
Autors principals: Cornish, Adam, Guda, Chittibabu
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4619817/
https://ncbi.nlm.nih.gov/pubmed/26539496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/456479
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