Article
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Annals of neurology - 1 May 2023
Billingsley Kimberley J, Ding Jinhui, Jerez Pilar Alvarez, Illarionova Anastasia, Levine Kristin, Grenn Francis P, Makarious Mary B, Moore Anni, Vitale Daniel, Reed Xylena, Hernandez Dena, Torkamani Ali, Ryten Mina, Hardy John, Chia Ruth, Scholz Sonja W, Traynor Bryan J, Dalgard Clifton L, Ehrlich Debra J, Tanaka Toshiko, Ferrucci Luigi, Beach Thomas G, Serrano Geidy E, Quinn John P, Bubb Vivien J, Collins Ryan L, Zhao Xuefang, Walker Mark, Pierce-Hoffman Emma, Brand Harrison, Talkowski Michael E, Casey Bradford, Cookson Mark R, Markham Androo, Nalls Mike A, Mahmoud Medhat, Sedlazeck Fritz J, Blauwendraat Cornelis, Gibbs J Raphael, Singleton Andrew B
Abstract excerpt
OBJECTIVE: Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. Consequently, causal variants for most PD risk are not known. Here we focused on structural variants (SVs), which represent a major source of genetic variation in the human...
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