Copy Number Variation in Familial Parkinson Disease
Nathan Pankratz; Alexandra Dumitriu; Kurt N. Hetrick; Mei Sun; Jeanne C. Latourelle; Jemma B. Wilk; Cheryl Halter; Kimberly F. Doheny · 2011 · PLoS ONE
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single missense mutation) may increase risk for PD. We recently performed a genome-wide association study for PD that excluded individuals known to have either a LRRK2 mutation or two PARK2 mutations. Data from the Illumina370Duo arrays were re-clustered using only white individuals with high quality intensity data, and CNV calls were made using two algorit
Abstract by Nathan Pankratz; Alexandra Dumitriu; Kurt N. Hetrick; Mei Sun; Jeanne C. Latourelle; Jemma B. Wilk; Cheryl Halter; Kimberly F. Doheny, PLoS ONE (2011) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.1371/journal.pone.0020988