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Article

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.

BMC genomics - 11 Dec 2012

Liu Qi, Shen Enjian, Min Qingjie, Li Xueying, Wang Xin, Li Xianfeng, Sun Zhong Sheng, Wu Jinyu

Abstract excerpt

BACKGROUND: Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its dramatically reduced cost. In fact, exome sequencing has been successfully applied to identify the cause of several Mendelian disorders, such as Miller and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23231371
DOI: 10.1186/1471-2164-13-692
PMCID: PMC3539923

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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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