|Title||SEQGWAS: Integrative analysis of sequencing and GWAS data (C/C++).|
|Year of Publication||2015|
|Authors||Hu, Yi-Juan, Yun Li, Paul L. Auer, and Dan-Yu Lin|
SEQGWAS is a command-line program written in C/C++ for integrative analysis of sequencing and GWAS data. SEQGWAS produces all commonly used gene-level tests, including the burden test, variable threshold (VT) test, and sequence-kernel association test (SKAT), all of which are based on the score statistic for assessing the effects of individual variants on the trait of interest. SEQGWAS calculates the score statistic based on the observed genotypes for sequenced subjects and the imputed genotypes for non-sequenced subjects, and constructs a robust variance estimator that reflects the true variability of the score statistic regardless of the sampling scheme and imputation quality, so that the corresponding association tests always have correct type I error.
|Original Publication||SEQGWAS: Integrative analysis of sequencing and GWAS data (C/C++).|
SEQGWAS: Integrative analysis of sequencing and GWAS data (C/C++).