The Parkinson’s Disease DNA Variant Browser

preprint OA: closed
📄 Open PDF View at publisher

Abstract

Parkinson’s disease (PD) is a genetically complex neurodegenerative disease with ~20 genes known to contain mutations that cause PD or atypical parkinsonism and 90 common genetic risk factors. Large-scale next-generation sequencing projects have revolutionized genomics research. Applying these data to PD, many genes have been reported to contain putative disease-causing mutations. In most instances, however, the results remain quite limited and rather preliminary, in large part because of an inability of any single group to validate findings in a large independent series of sequenced patients. We present here the Parkinson’s Disease Sequencing Browser: a Shiny-based web application that presents comprehensive summary-level frequency data from multiple large-scale genotyping and sequencing projects. The data is aggregated and involves a total of 102,127 participants, including 30,103 PD cases (including 1,650 proxy cases) and 72,024 controls. Our aim is to assist researchers on their search for PD-risk genes and variant candidates with an easily accessible and open summary-level genomic data browser for the PD research community, https://pdgenetics.shinyapps.io/VariantBrowser/ .

My notes (saved in your browser only)

Citation neighborhood (no data yet)

We don't have any in-corpus citations linked to this paper yet. The paper's references may be in our DB but unresolved to ``paper_id`` (resolution happens at ingest when the cited DOI matches a row we already have). Run the cross-source citation reconcile pass to retry.

Source provenance

europepmc
last seen: 2026-05-19T01:45:01.086888+00:00
unpaywall
last seen: 2026-06-13T06:42:57.164913+00:00