A Non-Degenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

Whereas countless highly penetrant variants have been associated with Mendelian disorders, the genetic etiologies underlying complex diseases remain largely unresolved. Here, we examine the extent to which Mendelian variation contributes to complex disease risk by mining the medical records of over...

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Detalhes bibliográficos
Main Authors: Blair, David R., Lyttle, Christopher S., Mortensen, Jonathan M., Bearden, Charles F., Jensen, Anders Boeck, Khiabanian, Hossein, Melamed, Rachel, Rabadan, Raul, Bernstam, Elmer V., Brunak, Søren, Jensen, Lars Juhl, Nicolae, Dan, Shah, Nigam H., Grossman, Robert L., Cox, Nancy J., White, Kevin P., Rzhetsky, Andrey
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3844554/
https://ncbi.nlm.nih.gov/pubmed/24074861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2013.08.030
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