An analytical framework for optimizing variant discovery from personal genomes

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dc.contributor.authorHighnam, Garethen
dc.contributor.authorWang, Jason J.en
dc.contributor.authorKusler, Deanen
dc.contributor.authorZook, Justinen
dc.contributor.authorVijayan, Vinayaen
dc.contributor.authorLeibovich, Niren
dc.contributor.authorMittelman, Daviden
dc.date.accessioned2019-02-08T14:44:19Zen
dc.date.available2019-02-08T14:44:19Zen
dc.date.issued2015-02en
dc.description.abstractThe standardization and performance testing of analysis tools is a prerequisite to widespread adoption of genome-wide sequencing, particularly in the clinic. However, performance testing is currently complicated by the paucity of standards and comparison metrics, as well as by the heterogeneity in sequencing platforms, applications and protocols. Here we present the genome comparison and analytic testing (GCAT) platform to facilitate development of performance metrics and comparisons of analysis tools across these metrics. Performance is reported through interactive visualizations of benchmark and performance testing data, with support for data slicing and filtering. The platform is freely accessible at http://www.bioplanet.com/gcat.en
dc.format.mimetypeapplication/pdfen
dc.identifier.doihttps://doi.org/10.1038/ncomms7275en
dc.identifier.issn2041-1723en
dc.identifier.other6275en
dc.identifier.pmid25711446en
dc.identifier.urihttp://hdl.handle.net/10919/87541en
dc.identifier.volume6en
dc.language.isoen_USen
dc.publisherSpringer Natureen
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.titleAn analytical framework for optimizing variant discovery from personal genomesen
dc.title.serialNature Communicationsen
dc.typeArticle - Refereeden
dc.type.dcmitypeTexten

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