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Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini-exome data

Association studies using tag SNPs have been successful in detecting disease-associated common variants. However, common variants, with rare exceptions, explain only at most 5–10% of the heritability resulting from genetic factors, which leads to the common disease/rare variants assumption. Indeed,...

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Autors principals: Yan, Xiting, Li, Lun, Lee, Joon Sang, Zheng, Wei, Ferguson, John, Zhao, Hongyu
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3287862/
https://ncbi.nlm.nih.gov/pubmed/22373324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1753-6561-5-S9-S27
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