Table 1.
Functionality | Features |
---|---|
Analyses of unrelated samples | Linear regression analysis for continuous traitsLogistic regression analysis for binary traitsFirth corrected logistic regression for single variant and burden tests of binary traits Commonly used rare variant tests for autosomal and X chromosome genes (Supplementary Table S1 for details) |
Analyses of related samples | Linear mixed model (LMM) analysis using pedigree/empirical kinshipsCommonly used rare variant tests for autosomal and X chromosome genes (Supplementary Table S1 for details). |
Variant annotation | Annotate coding variants using various gene definitionsRegion-based annotationIncorporate numerous bioinformatics databases |
Meta-analysis | Generate summary statistics in RAREMETAL format |
Integration with R | Summary association statistic files and annotated VCF files can be randomly accessed by SEQMINER (Zhan and Liu, 2015) in R |