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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi Publishing Corporation
2015
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| 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 |