Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Cornish, Adam, Guda, Chittibabu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619817/
https://www.ncbi.nlm.nih.gov/pubmed/26539496
http://dx.doi.org/10.1155/2015/456479