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Article

A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.

American journal of human genetics - 7 Jun 2018

Liu Yuwen, Liang Yanyu, Cicek A Ercument, Li Zhongshan, Li Jinchen, Muhle Rebecca A, Krenzer Martina, Mei Yue, Wang Yan, Knoblauch Nicholas, Morrison Jean, Zhao Siming, Jiang Yi, Geller Evan, Ionita-Laza Iuliana, Wu Jinyu, Xia Kun, Noonan James P, Sun Zhong Sheng, He Xin

Abstract excerpt

Analysis of de novo mutations (DNMs) from sequencing data of nuclear families has identified risk genes for many complex diseases, including multiple neurodevelopmental and psychiatric disorders. Most of these efforts have focused on mutations in protein-coding sequences. Evidence from genome-wide association studies (GWASs) strongly suggests that variants important to human diseases often lie in non-coding...

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Identifiers

PMID: 29754769
DOI: 10.1016/j.ajhg.2018.03.023
PMCID: PMC5992125

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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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