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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Main Authors: 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
Format: Artigo
Language:Inglês
Published: 2012
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Online Access: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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