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Article

Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.

PloS one - 1 Jan 2015

Field Matthew A, Cho Vicky, Andrews T Daniel, Goodnow Chris C

Abstract excerpt

A diversity of tools is available for identification of variants from genome sequence data. Given the current complexity of incorporating external software into a genome analysis infrastructure, a tendency exists to rely on the results from a single tool alone. The quality of the output variant calls is highly variable however, depending on factors such as sequence library quality as well as the choice of...

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PMID: 26600436
DOI: 10.1371/journal.pone.0143199
PMCID: PMC4658170

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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