Whole Genome Sequencing in Autism Identifies Hotspots for De Novo Germline Mutation

De novo mutation plays an important role in Autism Spectrum Disorders (ASDs). Notably, pathogenic copy number variants (CNVs) are characterized by high mutation rates. We hypothesize that hypermutability is a property of ASD genes, and may also include nucleotide-substitution hotspots. We investigat...

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Hlavní autoři: Michaelson, Jacob J., Shi, Yujian, Gujral, Madhusudan, Zheng, Hancheng, Malhotra, Dheeraj, Jin, Xin, Minghan, Jian, Liu, Guangming, Greer, Douglas, Bhandari, Abhishek, Wu, Wenting, Corominas, Roser, Peoples, Áine, Koren, Amnon, Gore, Athurva, Kang, Shuli, Lin, Guan Ning, Estabillo, Jasper, Gadomski, Therese, Singh, Balvindar, Zhang, Kun, Akshoomoff, Natacha, Corsello, Christina, McCarroll, Steven, Iakoucheva, Lilia M., Li, Yingrui, Wang, Jun, Sebat, Jonathan
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3712641/
https://ncbi.nlm.nih.gov/pubmed/23260136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2012.11.019
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