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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha: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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