Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.

ABSTRACT: Since the first novel gene discovery for a Mendelian condition was made via exome sequencing, the rapid increase in the number of genes known to underlie Mendelian conditions coupled with the adoption of exome (and more recently, genome) sequencing by diagnostic testing labs has changed the landscape of genomic testing for rare diseases. Specifically, many individuals suspected to have a Mendelian condition are now routinely offered clinical ES. This commonly results in a precise genetic diagnosis but frequently overlooks the identification of novel candidate genes. Such candidates are also less likely to be identified in the absence of large-scale gene discovery research programs. Accordingly, clinical laboratories have both the opportunity, and some might argue a responsibility, to contr

SUBMITTER: Chong JX 

PROVIDER: S-EPMC11456385 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature