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Article

Using population data for assessing next-generation sequencing performance.

Bioinformatics (Oxford, England) - 1 Jan 2015

Houniet Darren T, Rahman Thahira J, Al Turki Saeed, Hurles Matthew E, Xu Yaobo, Goodship Judith, Keavney Bernard, Santibanez Koref Mauro

Abstract excerpt

MOTIVATION: During the past 4 years, whole-exome sequencing has become a standard tool for finding rare variants causing Mendelian disorders. In that time, there has also been a proliferation of both sequencing platforms and approaches to analyse their output. This requires approaches to assess t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25236458
DOI: 10.1093/bioinformatics/btu606
PMCID: PMC4271148

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25236458-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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