{"doi":"10.1101/2020.08.11.20172882","title":"The Parkinson’s Disease DNA Variant Browser","abstract":"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/ .","journal":"medRxiv","year":2020,"id":127284,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.69,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":279266,"name":"Mary B. Makarious","orcid":"0000-0002-7978-1051","position":1,"is_corresponding":false},{"id":230757,"name":"Sara Bandrés‐Ciga","orcid":"0000-0003-0056-1361","position":2,"is_corresponding":false},{"id":80301,"name":"J. Raphael Gibbs","orcid":"0000-0002-6985-0658","position":3,"is_corresponding":false},{"id":271292,"name":"Jinhui Ding","orcid":"0000-0002-4691-4524","position":4,"is_corresponding":false},{"id":52674,"name":"Dena G. Hernandez","orcid":null,"position":5,"is_corresponding":false},{"id":575931,"name":"Janet Brooks","orcid":"0000-0002-6677-9788","position":6,"is_corresponding":false},{"id":280325,"name":"Francis P. Grenn","orcid":null,"position":7,"is_corresponding":false},{"id":252389,"name":"Hirotaka Iwaki","orcid":"0000-0002-8982-7885","position":8,"is_corresponding":false},{"id":6986,"name":"Andrew Singleton","orcid":"0000-0001-5606-700X","position":9,"is_corresponding":false},{"id":130825,"name":"Mike A. Nalls","orcid":null,"position":10,"is_corresponding":false},{"id":252390,"name":"Cornelis Blauwendraat","orcid":"0000-0001-9358-8111","position":11,"is_corresponding":false},{"id":280326,"name":"Jonggeol J. Kim","orcid":null,"position":0,"is_corresponding":true}],"reference_count":16,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:15:30.930746Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}