SCORE-Seq: Score tests for detecting disease associations with rare variants in sequencing studies (C).

TitleSCORE-Seq: Score tests for detecting disease associations with rare variants in sequencing studies (C).
Publication TypeSoftware
Year of Publication2013
AuthorsLin, Dan-Yu, and Zheng-Zheng Tang
Version5.0
Abstract

SCORE-Seq is a command-line program which implements score statistics for detecting disease associations with rare variants in sequencing studies. The mutation information is aggregated across multiple variant sites of a gene through a weighted linear combination and then related to disease phenotypes through appropriate regression models. The weights can be constant or dependent on allele frequencies and phenotypes. The association testing is based on score statistics. The allele-frequency threshold can be fixed or variable. Statistical significance can be assessed by using asymptotic normal approximation or resampling. The current release covers binary and continuous traits with arbitrary covariates under case-control and cross-sectional sampling. The newest version was released on March 20, 2013 with several new features. We are working intensely to improve the capabilities of SCORE-Seq, so please check back frequently for updates.

Original PublicationSCORE-Seq: Score tests for detecting disease associations with rare variants in sequencing studies (C).
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