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An analytical framework for optimizing variant discovery from personal genomes
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An analytical framework for optimizing variant discovery from personal genomes
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Journal Article
An analytical framework for optimizing variant discovery from personal genomes
2015
Overview
The 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
.
The standardization of clinical sequencing data generation and analysis is of critical importance. Here, the authors develop the Genome Comparison and Analytic Testing platform to facilitate the development of performance metrics and comparisons of analysis tools for clinical sequencing studies.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Pub. Group
