Testing for association with rare variants in the coding and non-coding genome: rava-first, a new approach based on cadd deleteriousness score

HIGHLIGHTS

SUMMARY

Rare variant association tests (RVAT) have been developed that gather rare variants into testing units and compare their rare variant content between cases and controls. Defining testing units and qualifying variants is much more challenging in the non-coding genome due to the lack of defined genomic elements and the higher difficulty to predict the functional impact of non-coding variants. The authors propose a filtering approach based on CADD scores with region-dependant thresholds to represent the genetic context of each CADD region and avoid the use of a fixed threshold along the . . .

 



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