DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

ABSTRACT: Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the "common disease-common variant" paradigm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human traits. Association studies of these rare variations show new challenges in terms of statistical analysis. Due to their low frequency, rare variants must be tested by groups. This approach is then hindered by the fact that an unknown proportion of the variants could be neutral. The risk level of a rare variation may be determined by its impact but also by its position in the protein sequence. More generally, the molecular mechanisms underlying the disease architecture may involve specific protein domains or in

SUBMITTER: Persyn E 

PROVIDER: S-EPMC5524342 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature