Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

ABSTRACT:

Introduction

Population genetic screening is rapidly emerging as a key methodology in the clinical laboratory for detecting actionable genomic conditions in asymptomatic patients. While current clinical methods are largely focused on targeted gene panels, the increasing efficiency of next-generation sequencing (NGS) platforms permits the use of whole genome sequencing (WGS) for routine clinical applications. The key advantage of WGS is that the complete genome produced by a single sequencing event can form the basis for a patient's genomic health care record for reanalysis throughout a patient's lifetime.

Methods

We developed a scalable clinical WGS-based lab developed procedure (LDP) for heritable disease gene testing and pharmacogenomics (PGx). We performed extensive valid

SUBMITTER: Wagner JT 

PROVIDER: S-EPMC12554564 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature