ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls.

ABSTRACT: A primary goal of the recent investment in sequencing is to detect novel genetic associations in health and disease improving the development of treatments and playing a critical role in precision medicine. While this investment has resulted in an enormous total number of sequenced genomes, individual studies of complex traits and diseases are often smaller and underpowered to detect rare variant genetic associations. Existing genetic resources such as the Exome Aggregation Consortium (>60,000 exomes) and the Genome Aggregation Database (~140,000 sequenced samples) have the potential to be used as controls in these studies. Fully utilizing these and other existing sequencing resources may increase power and could be especially useful in studies where resources to sequence additional sample

SUBMITTER: Hendricks AE 

PROVIDER: S-EPMC6191077 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature