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Article

Global inference of disease-causing single nucleotide variants from exome sequencing data.

BMC bioinformatics - 23 Dec 2016

Wu Mengmeng, Chen Ting, Jiang Rui

Abstract excerpt

BACKGROUND: Whole exome sequencing (WES) has recently emerged as an effective approach for identifying genetic variants underlying human diseases. However, considerable time and labour is needed for careful investigation of candidate variants. Although filtration based on population frequencies and functional prediction scores could effectively remove common and neutral variants, hundreds or even thousands of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28155632
DOI: 10.1186/s12859-016-1325-x
PMCID: PMC5260102

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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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