Targeted copy number variant identification across the neurodegenerative disease spectrum.

ABSTRACT:

Background

Although genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses. Copy number variants (CNVs) contribute to these phenotypes, but their presence and influence on disease state remains relatively understudied.

Methods

Here, we applied a depth of coverage approach to detect CNVs in 80 genes previously associated with neurodegenerative disease within participants of the Ontario Neurodegenerative Disease Research Initiative (n = 519).

Results

In total, we identified and validated four CNVs in the cohort, including: (1) a heterozygous deletion of exon 5 in OPTN in an Alzheimer's disease participant; (2) a duplication of exons 1-5 in PARK7 in an amyotrop

SUBMITTER: Dilliott AA 

PROVIDER: S-EPMC9356547 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature