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Article

Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.

Biological reviews of the Cambridge Philosophical Society - 1 May 2018

Jin Zi-Bing, Li Zhongshan, Liu Zhenwei, Jiang Yi, Cai Xue-Bi, Wu Jinyu

Abstract excerpt

Whole-genome or whole-exome sequencing (WGS/WES) of the affected proband together with normal parents (trio) is commonly adopted to identify de novo germline mutations (DNMs) underlying sporadic cases of various genetic disorders. However, our current knowledge of the occurrence and functional effects of DNMs remains limited and accurately identifying the disease-causing DNM from a group of irrelevant DNMs is...

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PMID: 29154454
DOI: 10.1111/brv.12383

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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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