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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Nature Genetics ( IF 31.7 ) Pub Date : 2017-05-15 00:00:00 , DOI: 10.1038/ng.3863
Daniel J Weiner , , Emilie M Wigdor , Stephan Ripke , Raymond K Walters , Jack A Kosmicki , Jakob Grove , Kaitlin E Samocha , Jacqueline I Goldstein , Aysu Okbay , Jonas Bybjerg-Grauholm , Thomas Werge , David M Hougaard , Jacob Taylor , David Skuse , Bernie Devlin , Richard Anney , Stephan J Sanders , Somer Bishop , Preben Bo Mortensen , Anders D Børglum , George Davey Smith , Mark J Daly , Elise B Robinson ,

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.

中文翻译:

多基因传播不平衡证实,常见和稀有变异可加在一起产生自闭症谱系障碍的风险

Elise Robinson及其同事介绍了多基因传播不平衡测试(pTDT),用于评估基于家庭的研究设计中多基因风险的传播。这组作者将pTDT应用于自闭症谱系障碍(ASD)族群,发现常见的多基因变异与de novo变异相加,从而增加了ASD的风险。
更新日期:2017-06-29
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