Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case–control analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory...

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Detalles Bibliográficos
Autores principales: Moreno-De-Luca, D, Sanders, S J, Willsey, A J, Mulle, J G, Lowe, J K, Geschwind, D H, State, M W, Martin, C L, Ledbetter, D H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720840/
https://www.ncbi.nlm.nih.gov/pubmed/23044707
http://dx.doi.org/10.1038/mp.2012.138

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720840/
https://www.ncbi.nlm.nih.gov/pubmed/23044707
http://dx.doi.org/10.1038/mp.2012.138

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