TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist
BMJ Open. 2025 Aug 10;15(8):e107603. doi: 10.1136/bmjopen-2025-107603. ABSTRACT INTRODUCTION: Rare diseases (RD) are collectively common and often genetic. Families value and can benefit from precise …