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Bioinformatics (Oxford, England) DOI:10.1093/bioinformatics/btu345

SMASH: A Benchmarking Toolkit for Human Genome Variant Calling.

Publication TypeJournal Article
Year of Publication2014
AuthorsTalwalkar, A, Liptrap, J, Newcomb, J, Hartl, C, Terhorst, J, Curtis, K, Bresler, M, Song, YS, Jordan, MI, Patterson, D
JournalBioinformatics (Oxford, England)
Date Published2014/06/03

Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call variants from human sequencing data disagree on many of their predictions, and current methods to evaluate accuracy and computational performance are ad-hoc and incomplete. Agreement on benchmarking variant calling methods would stimulate development of genomic processing tools and facilitate communication among researchers.