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Article

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

Scientific reports - 21 Mar 2017

Ma Ruiyu, Deng Linbei, Xia Yan, Wei Xianda, Cao Yingxi, Guo Ruolan, Zhang Rui, Guo Jing, Liang Desheng, Wu Lingqian

Abstract excerpt

Copy number variation (CNV) is of great significance in human evolution and disorders. Through tracing the parent-of-origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health. In our study, short tandem repeat (STR) and single nucleotide polymorphism (SNP) were used to determine the parent-of-origin of 87 de novo pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28322228
DOI: 10.1038/srep44446
PMCID: PMC5359547

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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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