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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Bibliografiska uppgifter
I publikationen:PLoS Genet
Huvudupphovsmän: Ionita-Laza, Iuliana, Capanu, Marinela, De Rubeis, Silvia, McCallum, Kenneth, Buxbaum, Joseph D.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2014
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4263785/
https://ncbi.nlm.nih.gov/pubmed/25502226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004729
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