Score Seq

SCORE-SEQ

Record added by Jurg Ott (the original Rockefeller list)

Full Name

SCORE-type tests for detecting disease associations with rare variants in SEQuencing Studies

Description

SCORE-Seq is a command-line program 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-type 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.

Author

Danyu Lin
Zheng-Zheng Tang (Univ North Carolina)

URL

http://www.bios.unc.edu/~lin/software/SCORE-Seq/

Reference

Lin, Tang (2011), “A general framework for detecting disease associations with rare variants in sequencing studies”, American Journal of Human Genetics, 89:354-367.