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

Abstract

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 different aligners and five different variant callers to… (More)
DOI: 10.1155/2015/456479

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Cite this paper

@inproceedings{Cornish2015ACO, title={A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference}, author={Adam S. Cornish and Chittibabu Guda}, booktitle={BioMed research international}, year={2015} }