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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- Weiner, Daniel J;
- Wigdor, Emilie M;
- Ripke, Stephan;
- Walters, Raymond K;
- Kosmicki, Jack A;
- Grove, Jakob;
- Samocha, Kaitlin E;
- Goldstein, Jacqueline I;
- Okbay, Aysu;
- Bybjerg-Grauholm, Jonas;
- Werge, Thomas;
- Hougaard, David M;
- Taylor, Jacob;
- Skuse, David;
- Devlin, Bernie;
- Anney, Richard;
- Sanders, Stephan J;
- Bishop, Somer;
- Mortensen, Preben Bo;
- Børglum, Anders D;
- Smith, George Davey;
- Daly, Mark J;
- Robinson, Elise B
Published Web Location
https://doi.org/10.1038/ng.3863Abstract
Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study designs. The authors apply pTDT to a cohort of autism spectrum disorder (ASD) families and find that common polygenic variation acts additively with de novo variants to contribute to ASD risk.
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