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

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 (S...

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Publicado en:Sci Rep
Autores principales: Ma, Ruiyu, Deng, Linbei, Xia, Yan, Wei, Xianda, Cao, Yingxi, Guo, Ruolan, Zhang, Rui, Guo, Jing, Liang, Desheng, Wu, Lingqian
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5359547/
https://ncbi.nlm.nih.gov/pubmed/28322228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44446
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