Large-scale rare variant burden testing in Parkinson's disease.

doi:10.1093/brain/awad214

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Article

Large-scale rare variant burden testing in Parkinson's disease.

Brain : a journal of neurology - 2 Nov 2023

Makarious Mary B, Lake Julie, Pitz Vanessa, Ye Fu Allen, Guidubaldi Joseph L, Solsberg Caroline Warly, Bandres-Ciga Sara, Leonard Hampton L, Kim Jonggeol Jeffrey, Billingsley Kimberley J, Grenn Francis P, Jerez Pilar Alvarez, Alvarado Chelsea X, Iwaki Hirotaka, Ta Michael, Vitale Dan, Hernandez Dena, Torkamani Ali, Ryten Mina, Hardy John, Scholz Sonja W, Traynor Bryan J, Dalgard Clifton L, Ehrlich Debra J, Tanaka Toshiko, Ferrucci Luigi, Beach Thomas G, Serrano Geidy E, Real Raquel, Morris Huw R, Ding Jinhui, Gibbs J Raphael, Singleton Andrew B, Nalls Mike A, Bhangale Tushar, Blauwendraat Cornelis

Abstract excerpt

Parkinson's disease has a large heritable component and genome-wide association studies have identified over 90 variants with disease-associated common variants, providing deeper insights into the disease biology. However, there have not been large-scale rare variant analyses for Parkinson's disease. To address this gap, we investigated the rare genetic component of Parkinson's disease at minor allele frequencies...

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Identifiers

PMID: 37348876
DOI: 10.1093/brain/awad214
PMCID: PMC10629770

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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