Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.

Eran BramKamyab JavanmardiKimberly NicholsonKristen CulpJulie R ThibertJon KemppainenVivian LeAnnette SchlageterAndrew HaddGary J Latham

Published in: Amyotrophic lateral sclerosis & frontotemporal degeneration (2018)

This study and PCR method may improve and standardize molecular characterization of the C9orf72 locus, and have the potential to inform phenotype-genotype correlations and therapeutic development in ALS/FTD.

Keyphrases

high throughput
amyotrophic lateral sclerosis
genome wide
risk assessment
human health