Advancing diagnosis and management of liver disease in adults through exome sequencing.

ABSTRACT:

Background

Whole-exome sequencing (WES) is an effective tool for diagnosis in patients who remain undiagnosed despite a comprehensive clinical work-up. While WES is being used increasingly in pediatrics and oncology, it remains underutilized in non-oncological adult medicine, including in patients with liver disease, in part based on the faulty premise that adults are unlikely to harbor rare genetic variants with large effect size. Here, we aim to assess the burden of rare genetic variants underlying liver disease in adults at two major tertiary referral academic medical centers.

Methods

WES analysis paired with comprehensive clinical evaluation was performed in fifty-two adult patients with liver disease of unknown etiology evaluated at two US tertiary academic health care

SUBMITTER: Zheng M 

PROVIDER: S-EPMC10433007 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature