Article

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

2025-07-17

Abstract excerpt

Population genetic screening is rapidly emerging as a key methodology in the clinical laboratory for detecting actionable genomic conditions. 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 comple...

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Literature Corpus work: e87d58be-36de-5258-a63e-43bd9380a215
DOI: 10.1101/2025.07.16.25331598

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