To address the aforementioned challenges and needs, we have developed and distributed the RVTESTS package for efficient and comprehensive analyses of sequence-based associations. RVTESTS offers a great variety of useful features (Table 1): Table 1. Main features for RVTESTSFunctionalityFeaturesAnalyses of unrelated samplesLinear 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 samplesLinear mixed model (LMM) analysis using pedigree/empirical kinshipsCommonly used rare variant tests for autosomal and X chromosome genes (Supplementary Table S1 for details).Variant annotationAnnotate coding variants using various gene definitionsRegion-based annotationIncorporate numerous bioinformatics databasesMeta-analysisGenerate summary statistics in RAREMETAL formatIntegration with RSummary association statistic files and annotated VCF files can be randomly accessed by SEQMINER (Zhan and Liu, 2015) in R
