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Identification Of Genetic Association Of Multiple Rare Variants Using Collapsing Methods, Yan V. Sun, Yun Ju Sung, Nathan L. Tintle, Andreas Ziegler
Identification Of Genetic Association Of Multiple Rare Variants Using Collapsing Methods, Yan V. Sun, Yun Ju Sung, Nathan L. Tintle, Andreas Ziegler
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Next-generation sequencing technology allows investigation of both common and rare variants in humans. Exomes are sequenced on the population level or in families to further study the genetics of human diseases. Genetic Analysis Workshop 17 (GAW17) provided exomic data from the 1000 Genomes Project and simulated phenotypes. These data enabled evaluations of existing and newly developed statistical methods for rare variant sequence analysis for which standard statistical methods fail because of the rareness of the alleles. Various alternative approaches have been proposed that overcome the rareness problem by combining multiple rare variants within a gene. These approaches are termed collapsing …