The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.

Kensuke DaidaHiroyo YoshinoLaksh MalikBreeana BakerMayu IshiguroRylee GennerKimberly PaquetteYuanzhe LiKenya NishiokaSatoshi MasuzugawaMakito HiranoKenta TakahashiMikhail KolmogolvKimberley J BillingsleyManabu FunayamaCornelis BlauwendraatNobutaka Hattori

Published in: medRxiv : the preprint server for health sciences (2024)

locus that is often missed by conventional methods. Therefore, for cases where conventional methods fail to detect a second variant for EOPD, long-read sequencing should be considered as an alternative and complementary approach.

Keyphrases

single cell
single molecule
genome wide
copy number
intellectual disability
gene expression
autism spectrum disorder
muscular dystrophy