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Article

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.

Nucleic acids research - 1 Apr 2012

Li Miao-Xin, Gui Hong-Sheng, Kwan Johnny S H, Bao Su-Ying, Sham Pak C

Abstract excerpt

Exome sequencing strategy is promising for finding novel mutations of human monogenic disorders. However, pinpointing the casual mutation in a small number of samples is still a big challenge. Here, we propose a three-level filtration and prioritization framework to identify the casual mutation(s) in exome sequencing studies. This efficient and comprehensive framework successfully narrowed down whole exome...

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Identifiers

PMID: 22241780
DOI: 10.1093/nar/gkr1257
PMCID: PMC3326332

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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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