The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson’s Disease: a genetic screening study
Kensuke Daida,
Hiroyo Yoshino,
Laksh Malik
et al.
Abstract:BackgroundMutations within the genesPRKNandPINK1are the leading cause of early onset autosomal recessive Parkinson’s disease (PD). However, the genetic cause of most early-onset PD (EOPD) cases still remains unresolved. Long-read sequencing has successfully identified many pathogenic structural variants that cause disease, but this technology has not been widely applied to PD. We recently identified the genetic cause of EOPD in a pair of monozygotic twins by uncovering a complex structural variant that spans o… Show more
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