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Author (up) Liu, D.J.; Peloso, G.M.; Zhan, X.; Holmen, O.L.; Zawistowski, M.; Feng, S.; Nikpay, M.; Auer, P.L.; Goel, A.; Zhang, H.; Peters, U.; Farrall, M.; Orho-Melander, M.; Kooperberg, C.; McPherson, R.; Watkins, H.; Willer, C.J.; Hveem, K.; Melander, O.; Kathiresan, S.; Abecasis, G.R. url  doi
  Title Meta-analysis of gene-level tests for rare variant association Type Journal Article
  Year 2014 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 46 Issue 2 Pages 200-204  
  Keywords Data Interpretation, Statistical; Exome/genetics; Genetic Association Studies/*methods; *Genetic Variation; Genetics, Population; Genotype; Humans; Lipids/blood/*genetics; *Meta-Analysis as Topic; Models, Genetic; Monte Carlo Method; *Research Design  
  Abstract The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level data. As the focus of genetic association studies shifts to rare variants, genes and other functional units are becoming the focus of analysis. Here we propose and evaluate new approaches for performing meta-analysis of rare variant association tests, including burden tests, weighted burden tests, variable-threshold tests and tests that allow variants with opposite effects to be grouped together. We show that our approach retains useful features from single-variant meta-analysis approaches and demonstrate its use in a study of blood lipid levels in approximately 18,500 individuals genotyped with exome arrays.  
  Address 1] Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA. [2]  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1061-4036 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:24336170; PMC3939031 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1600  
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