Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Alessandro GeroldiAlessia MammiAndrea GaudioSerena PatroneAndrea La BarberaPaola OrigoneClarissa PontiFrancesca SanguineriSara MassuccoLucio MarinelliMarina GrandisAngelo SchenonePaola MandichEmilia BelloneFabio Gotta

Published in: Journal of medical genetics (2024)

The widespread availability of high-throughput sequencing technologies has enabled genetic testing even for laboratories without specific disease expertise. Disease-specific ACMG criteria can be a valuable tool to prevent the proliferation of variants of uncertain significance and the misinterpretation of variants.

Keyphrases

copy number
high throughput sequencing
clinical practice
gene expression
genome wide