Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders. #Nanopore #RepeatExpansionDisorders #CRISPR_Cas9 #TargetedSequencing #GenomicsProteomicsBioinformatics 🧪🧬 🖥️
academic.oup.com/gpb/advance-...

Increased frequency of repeat expansion mutations across different populations Repeat expansion disorders are found in all major global populations, and their frequency is up to three times higher than typically quoted, suggesting underdiagnosis or incomplete penetrance.

New study analyzes #RepeatExpansionDisorders in 82,176 people, revealing 1 in 3,000 affected globally. Population-specific differences complicate estimates. Need improved detection. #Genomics #Neurology PMID:39354197, Nat Med 2024, @NatureMedicine