{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:08:31Z","timestamp":1792084111322,"version":"4.4.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Michael J. Fox Foundation and the Malaysian Ministry of Education Fundamental Research Grant Scheme"},{"name":"Michael J. Fox Foundation for Parkinson\u2019s Research and the Aligning Science Across Parkinson\u2019s Initiative"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["npj Parkinsons Dis."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The Monogenic Network of the Global Parkinson\u2019s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson\u2019s disease (PD) and to improve our understanding of already identified genetic causes, such as reduced penetrance and variable clinical expressivity of known disease-causing variants. We aim to perform short- and long-read whole-genome sequencing for up to 10,000 patients with parkinsonism. Important features of this project are global involvement and focusing on historically underrepresented populations.<\/jats:p>","DOI":"10.1038\/s41531-023-00526-9","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T07:02:25Z","timestamp":1687849345000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Elucidating causative gene variants in hereditary Parkinson\u2019s disease in the Global Parkinson\u2019s Genetics Program (GP2)"],"prefix":"10.1038","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7162-9821","authenticated-orcid":false,"given":"Lara M.","family":"Lange","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micol","family":"Avenali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melina","family":"Ellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1711-7155","authenticated-orcid":false,"given":"Anastasia","family":"Illarionova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0979-6001","authenticated-orcid":false,"given":"Ignacio J.","family":"Keller Sarmiento","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2979-3839","authenticated-orcid":false,"given":"Ai-Huey","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harutyun","family":"Madoev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Galandra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Junker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karisha","family":"Roopnarain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Solle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Wegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0225-8772","authenticated-orcid":false,"given":"Zih-Hua","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5218-1737","authenticated-orcid":false,"given":"Peter","family":"Heutink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3482-6962","authenticated-orcid":false,"given":"Kishore R.","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shen-Yang","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-6820","authenticated-orcid":false,"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Nalls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9358-8111","authenticated-orcid":false,"given":"Cornelis","family":"Blauwendraat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5606-700X","authenticated-orcid":false,"given":"Andrew","family":"Singleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niccolo","family":"Mencacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-3431","authenticated-orcid":false,"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Global Parkinson\u2019s Genetic Program (GP2)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"key":"526_CR1","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1002\/mds.28494","volume":"36","author":"The Global Parkinson\u2019s Genetics Program (GP2).","year":"2021","unstructured":"The Global Parkinson\u2019s Genetics Program (GP2). GP2: The Global Parkinson\u2019s Genetics Program. Mov. Disord. 36, 842\u2013851 (2021).","journal-title":"Mov. Disord."},{"key":"526_CR2","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1002\/mds.27974","volume":"35","author":"H Iwaki","year":"2020","unstructured":"Iwaki, H. et al. Penetrance of Parkinson\u2019s disease in LRRK2 p.G2019S carriers is modified by a polygenic risk score. Mov. Disord. 35, 774\u2013780 (2020).","journal-title":"Mov. Disord."},{"key":"526_CR3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.3233\/JPD-181505","volume":"8","author":"C Klein","year":"2018","unstructured":"Klein, C., Hattori, N. & Marras, C. MDSGene: closing data gaps in genotype-phenotype correlations of monogenic Parkinson\u2019s disease. J. Parkinsons Dis. 8, 25\u201330 (2018).","journal-title":"J. Parkinsons Dis."},{"key":"526_CR4","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1002\/mds.27559","volume":"34","author":"J Trinh","year":"2019","unstructured":"Trinh, J. et al. Utility and implications of exome sequencing in early-onset Parkinson\u2019s disease. Mov. Disord. 34, 133\u2013137 (2019).","journal-title":"Mov. Disord."},{"key":"526_CR5","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1002\/mds.29126","volume":"37","author":"AF Schumacher-Schuh","year":"2022","unstructured":"Schumacher-Schuh, A. F. et al. Underrepresented populations in parkinson\u2019s genetics research: current landscape and future directions. Mov. Disord. 37, 1593\u20131604 (2022).","journal-title":"Mov. Disord."},{"key":"526_CR6","doi-asserted-by":"publisher","first-page":"1857","DOI":"10.1002\/mds.27527","volume":"33","author":"J Trinh","year":"2018","unstructured":"Trinh, J. et al. Genotype-phenotype relations for the Parkinson\u2019s disease genes SNCA, LRRK2, VPS35: MDSGene systematic review. Mov. Disord. 33, 1857\u20131870 (2018).","journal-title":"Mov. Disord."},{"key":"526_CR7","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1002\/mds.27352","volume":"33","author":"M Kasten","year":"2018","unstructured":"Kasten, M. et al. Genotype-phenotype relations for the parkinson\u2019s disease genes parkin, PINK1, DJ1: MDSGene systematic review. Mov. Disord. 33, 730\u2013741 (2018).","journal-title":"Mov. Disord."},{"key":"526_CR8","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06159-4","volume":"9","author":"AA Regier","year":"2018","unstructured":"Regier, A. A. et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat. Commun. 9, 4038 (2018).","journal-title":"Nat. Commun."},{"key":"526_CR9","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1002\/mds.28549","volume":"36","author":"H Iwaki","year":"2021","unstructured":"Iwaki, H. et al. Accelerating medicines partnership: Parkinson\u2019s disease. Genetic resource. Mov. Disord. 36, 1795\u20131804 (2021).","journal-title":"Mov. Disord."},{"key":"526_CR10","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giaa145","volume":"9","author":"S Zarate","year":"2020","unstructured":"Zarate, S. et al. Parliament2: accurate structural variant calling at scale. GigaScience 9, giaa145 (2020).","journal-title":"GigaScience"},{"key":"526_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41467-019-13341-9","volume":"10","author":"HP Eggertsson","year":"2019","unstructured":"Eggertsson, H. P. et al. GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs. Nat. Commun. 10, 1\u20138 (2019).","journal-title":"Nat. Commun."},{"key":"526_CR12","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4","volume":"17","author":"W McLaren","year":"2016","unstructured":"McLaren, W. et al. The ensembl variant effect predictor. Genome Biol. 17, 122 (2016).","journal-title":"Genome Biol."},{"key":"526_CR13","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-021-01100-7","volume":"21","author":"L Cook","year":"2021","unstructured":"Cook, L., Schulze, J., Naito, A. & Alcalay, R. N. The role of genetic testing for Parkinson\u2019s disease. Curr. Neurol. Neurosci. Rep. 21, 17 (2021).","journal-title":"Curr. Neurol. Neurosci. Rep."}],"updated-by":[{"DOI":"10.1038\/s41531-023-00560-7","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T00:00:00Z","timestamp":1694563200000}}],"container-title":["npj Parkinson's Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41531-023-00526-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41531-023-00526-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41531-023-00526-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T19:07:55Z","timestamp":1700420875000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41531-023-00526-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,27]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["526"],"URL":"https:\/\/doi.org\/10.1038\/s41531-023-00526-9","relation":{},"ISSN":["2373-8057"],"issn-type":[{"value":"2373-8057","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,27]]},"assertion":[{"value":"1 December 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 May 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 June 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 September 2023","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1038\/s41531-023-00560-7","URL":"https:\/\/doi.org\/10.1038\/s41531-023-00560-7","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"C.K. has received grant support from the Michael J. Fox Foundation for Parkinson\u2019s Research and the Aligning Science Across Parkinson\u2019s Initiative. She serves as a medical advisor to Centogene and Retromer Therapeutics and has received a speaker\u2019s honorarium from Desitin Pharma. S.-Y.L. received grants from the Michael J. Fox Foundation and the Malaysian Ministry of Education Fundamental Research Grant Scheme. A.S. and C.B. have received grant support from the Michael J. Fox Foundation for Parkinson\u2019s Research and the Aligning Science Across Parkinson\u2019s Initiative. A.S. has received royalty payments related to a diagnostic for stroke. M.N. is a consultant employed by Data Tecnica International. Data Tecnica is engaged in a consulting agreement with the US National Institutes of Health. A.S. and K.L. are editors for npj Parkinson\u2019s Disease. A.S. and K.L. were not involved in the journal\u2019s review of, or decisions related to, this manuscript. L.M.L., M.A., M.E., Z.-H.F., C.G., P.H., A.I., J.J., I.J.K.S., K.R.K., H.M., N.M., K.R., A.-H.T., E.M.V., J.S., and C.W. declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"100"}}