Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism

Pinpointing the small number of causal variants among the abundant naturally occurring genetic variation is a difficult challenge, but a crucial one for understanding precise molecular mechanisms of disease and follow-up functional studies. We propose and investigate two complementary statistical ap...

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Detalles Bibliográficos
Autores principales: Ionita-Laza, Iuliana, Capanu, Marinela, De Rubeis, Silvia, McCallum, Kenneth, Buxbaum, Joseph D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263785/
https://www.ncbi.nlm.nih.gov/pubmed/25502226
http://dx.doi.org/10.1371/journal.pgen.1004729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263785/
https://www.ncbi.nlm.nih.gov/pubmed/25502226
http://dx.doi.org/10.1371/journal.pgen.1004729

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