SMaSH: a benchmarking toolkit for human genome variant calling.
Ontology highlight
ABSTRACT:
SUBMITTER: Talwalkar A
PROVIDER: S-EPMC4173010 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Publications
SMaSH: a benchmarking toolkit for human genome variant calling.
Talwalkar Ameet A Liptrap Jesse J Newcomb Julie J Hartl Christopher C Terhorst Jonathan J Curtis Kristal K Bresler Ma'ayan M Song Yun S YS Jordan Michael I MI Patterson David D
Bioinformatics (Oxford, England) 20140603 19
<h4>Motivation</h4>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 geno ...[more]
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