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Article

Impact of post-alignment processing in variant discovery from whole exome data.

BMC bioinformatics - 3 Oct 2016

Tian Shulan, Yan Huihuang, Kalmbach Michael, Slager Susan L

Abstract excerpt

BACKGROUND: GATK Best Practices workflows are widely used in large-scale sequencing projects and recommend post-alignment processing before variant calling. Two key post-processing steps include the computationally intensive local realignment around known INDELs and base quality score recalibration (BQSR). Both have been shown to reduce erroneous calls; however, the findings are mainly supported by the analytical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27716037
DOI: 10.1186/s12859-016-1279-z
PMCID: PMC5048557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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