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Article

Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals.

Bioinformatics (Oxford, England) - 15 Jun 2014

Cheng Anthony Youzhi, Teo Yik-Ying, Ong Rick Twee-Hee

Abstract excerpt

MOTIVATION: Whole-genome sequencing (WGS) is now routinely used for the detection and identification of genetic variants, particularly single nucleotide polymorphisms (SNPs) in humans, and this has provided valuable new insights into human diversity, population histories and genetic association studies of traits and diseases. However, this relies on accurate detection and genotyping calling of the polymorphisms...

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Share to Genome, Human
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 24558117
DOI: 10.1093/bioinformatics/btu067

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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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