Various analytical approaches have been suggested for the characterization of rare variants. One main approach is to collapse the genetic information of rare variants in a region and to construct an overall test statistic. Here, we proposed a new approach based on collapsed genotype scores. By utilizing the information of the association signal that is ignored in collapsing methods, i.e. the configuration of rare alleles, we constructed a more powerful test and compared it with existing rare-variant approaches. With extensive simulation studies, we showed that our method performs better than existing approaches, and we applied our method to a sequencing study of nonsyndromic cleft lip illustrating the practical advantages of the proposed method.

Keywords:
Rare variants, Association analysis, Burden test
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© 2014 S. Karger AG, Basel
2014
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