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Identification of rare variants from exome sequence in a large pedigree with autism

We carried out analyses with the goal of identifying rare variants in exome sequence data that contribute to disease risk for a complex trait. We analyzed a large, 47-member multigenerational pedigree with 11 cases of autism spectrum disorder, using genotypes from three technologies representing inc...

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Detalhes bibliográficos
Main Authors: Marchani, E. E., Chapman, N. H., Cheung, C. Y. K., Ankenman, K., Stanaway, I. B., Coon, H. H., Nickerson, D., Bernier, R., Brkanac, Z., Wijsman, E. M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722055/
https://ncbi.nlm.nih.gov/pubmed/23594493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000346560
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