Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

ABSTRACT:

Background

Exome and genome sequencing have been demonstrated to increase diagnostic yield in paediatric populations, improving treatment options and providing risk information for relatives. There are limited studies examining the clinical utility of these tests in adults, who currently have limited access to this technology.

Methods

Patients from adult and cancer genetics clinics across Toronto, Ontario, Canada were recruited into a prospective cohort study evaluating the diagnostic utility of exome and genome sequencing in adults. Eligible patients were ≥18 years of age and suspected of having a hereditary disorder but had received previous uninformative genetic test results. In total, we examined the diagnostic utility of exome and genome sequencing in 47 probands and 34

SUBMITTER: Shickh S 

PROVIDER: S-EPMC8475751 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature