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CLIN_SKAT: an R package to conduct association analysis using functionally relevant variants.

Amrita ChattopadhyayChing-Yu ShihYu-Chen HsuJyh-Ming Jimmy JuangEric Y ChuangTzu-Pin Lu
Published in: BMC bioinformatics (2022)
Statistical association analysis is often underpowered due to low sample sizes and high numbers of variants to be tested, limiting detection of causal ones. Therefore, retaining a subset of variants that are biologically meaningful seems to be a more effective strategy for identifying explainable associations while reducing the degrees of freedom. CLIN_SKAT offers users a one-stop R package that identifies disease risk variants with improved power via a series of tailor-made procedures that allows dimension reduction, by retaining functionally relevant variants, and incorporating ethnicity based priors. Furthermore, it also eliminates the requirement for high computational resources and bioinformatics expertise.
Keyphrases
  • copy number
  • genome wide
  • dna methylation
  • label free