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Article

ReliableGenome: annotation of genomic regions with high/low variant calling concordance.

Bioinformatics (Oxford, England) - 15 Jan 2017

Popitsch Niko, Schuh Anna, Taylor Jenny C

Abstract excerpt

MOTIVATION: The increasing adoption of clinical whole-genome resequencing (WGS) demands for highly accurate and reproducible variant calling (VC) methods. The observed discordance between state-of-the-art VC pipelines, however, indicates that the current practice still suffers from non-negligible numbers of false positive and negative SNV and INDEL calls that were shown to be enriched among discordant calls but...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27605105
DOI: 10.1093/bioinformatics/btw587
PMCID: PMC5903559

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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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