An analytical framework for optimizing variant discovery from personal genomes

Nat Commun. 2015 Feb 25;6:6275. doi: 10.1038/ncomms7275.

Abstract

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.

MeSH terms

  • Benchmarking
  • Genetic Variation
  • Genomics*
  • Humans
  • Software*