Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) - PubMed
6 hours ago
- #Repeat expansions
- #Next-generation sequencing
- #ACMG guidelines
- The American College of Medical Genetics and Genomics (ACMG) issues considerations for detecting repeat expansion variants using next-generation sequencing.
- Detection of repeat expansions via next-generation sequencing is relevant for diagnosis and screening.
- Some authors report receiving salary for clinical services or NIH support, while others declare no conflicts of interest.