Frequency and Complexity of De Novo Structural Mutation in Autism

Genetic studies of autism spectrum disorder (ASD) have established that de novo duplications and deletions contribute to risk. However, ascertainment of structural variants (SVs) has been restricted by the coarse resolution of current approaches. By applying a custom pipeline for SV discovery, genot...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Brandler, William M., Antaki, Danny, Gujral, Madhusudan, Noor, Amina, Rosanio, Gabriel, Chapman, Timothy R., Barrera, Daniel J., Lin, Guan Ning, Malhotra, Dheeraj, Watts, Amanda C., Wong, Lawrence C., Estabillo, Jasper A., Gadomski, Therese E., Hong, Oanh, Fajardo, Karin V. Fuentes, Bhandari, Abhishek, Owen, Renius, Baughn, Michael, Yuan, Jeffrey, Solomon, Terry, Moyzis, Alexandra G., Maile, Michelle S., Sanders, Stephan J., Reiner, Gail E., Vaux, Keith K., Strom, Charles M., Zhang, Kang, Muotri, Alysson R., Akshoomoff, Natacha, Leal, Suzanne M., Pierce, Karen, Courchesne, Eric, Iakoucheva, Lilia M., Corsello, Christina, Sebat, Jonathan
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833290/
https://ncbi.nlm.nih.gov/pubmed/27018473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.02.018
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