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Article

Systematic comparison of variant calling pipelines using gold standard personal exome variants.

Scientific reports - 7 Dec 2015

Hwang Sohyun, Kim Eiru, Lee Insuk, Marcotte Edward M

Abstract excerpt

The success of clinical genomics using next generation sequencing (NGS) requires the accurate and consistent identification of personal genome variants. Assorted variant calling methods have been developed, which show low concordance between their calls. Hence, a systematic comparison of the variant callers could give important guidance to NGS-based clinical genomics. Recently, a set of high-confident variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26639839
DOI: 10.1038/srep17875
PMCID: PMC4671096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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