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...
Autores principales: | , |
---|---|
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 |