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mirDNMR: a gene-centered database of background de novo mutation rates in human.

Nucleic acids research - 4 Jan 2017

Jiang Yi, Li Zhongshan, Liu Zhenwei, Chen Denghui, Wu Wanying, Du Yaoqiang, Ji Liying, Jin Zi-Bing, Li Wei, Wu Jinyu

Abstract excerpt

De novo germline mutations (DNMs) are the rarest genetic variants proven to cause a considerable number of sporadic genetic diseases, such as autism spectrum disorders, epileptic encephalopathy, schizophrenia, congenital heart disease, type 1 diabetes, and hearing loss. However, it is difficult to accurately assess the cause of DNMs and identify disease-causing genes from the considerable number of DNMs in...

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Identifiers

PMID: 27799474
DOI: 10.1093/nar/gkw1044
PMCID: PMC5210538

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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