Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach.

ABSTRACT:

Background

As genomic sequencing moves closer to clinical implementation, there has been an increasing acceptance of returning incidental findings to research participants and patients for mutations in highly penetrant, medically actionable genes. A curated list of genes has been recommended by the American College of Medical Genetics and Genomics (ACMG) for return of incidental findings. However, the pleiotropic effects of these genes are not fully known. Such effects could complicate genetic counseling when returning incidental findings. In particular, there has been no systematic evaluation of psychiatric manifestations associated with rare variation in these genes.

Results

Here, we leveraged a targeted sequence panel and real-world electronic health records from the eMER

SUBMITTER: Feng YA 

PROVIDER: S-EPMC9121574 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature