{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:37:54Z","timestamp":1790962674487,"version":"4.1.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"vor","delay-in-days":202,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Intramural Research Program of the NIH, National Institute on Aging"},{"name":"National Institutes of Health, Department of Health and Human Services","award":["ZO1 AG000534"],"award-info":[{"award-number":["ZO1 AG000534"]}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Global Parkinson\u2019s Genetics"},{"name":"Aligning Science Across Parkinson\u2019s"},{"name":"The Michael J. Fox Foundation for Parkinson\u2019s Research"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independent array-based callers suffer from high false positive rates and noise susceptibility, burdening manual validation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We present CNV-Finder, a deep learning pipeline employing Long Short-Term Memory (LSTM) networks for large-scale CNV identification within user-defined genomic regions. Trained on expert-annotated samples from the Global Parkinson\u2019s Genetics Program across four neurodegenerative disease-associated genes (PRKN, LINGO2, MAPT, SNCA), CNV-Finder integrates human feedback to iteratively improve performance. In benchmarking across 105 936 samples spanning 11 ancestries and nearly 150 cohorts, the model achieved 91% and 89% visual confirmation rates for PRKN deletions and duplications at high-confidence thresholds. In two validation cohorts, CNV-Finder nominated 83% fewer candidates than a popular Hidden Markov Model-based caller while maintaining higher confirmation rates. Validation through MLPA, short-read, and long-read sequencing demonstrated robust performance, generalizing to diverse signatures including homozygous deletions and SNCA triplications absent from training. Our findings highlight human expertise\u2019s value in complex loci like 17q21.31.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>CNV-Finder is freely available at https:\/\/github.com\/nvk23\/CNV-Finder.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioadv\/vbag205","type":"journal-article","created":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T11:34:01Z","timestamp":1784633641000},"source":"Crossref","is-referenced-by-count":1,"title":["CNV-Finder: streamlining copy number variation discovery"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-9847-0282","authenticated-orcid":false,"given":"Nicole","family":"Kuznetsov","sequence":"first","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"DataTecnica LLC , Washington, DC 20037,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kensuke","family":"Daida","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary B","family":"Makarious","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"DataTecnica LLC , Washington, DC 20037,","place":["United States"]},{"name":"Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London , London WC1N 3BG,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bashayer","family":"Al-Mubarak","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center , Riyadh 12713,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kajsa","family":"Atterling Brolin","sequence":"additional","affiliation":[{"name":"Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund University , Lund 221 00,","place":["Sweden"]},{"name":"Centre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University of London , London E1 4NS,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laksh","family":"Malik","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric","family":"Kouam","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Breeana","family":"Baker","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8117-742X","authenticated-orcid":false,"given":"Raquel","family":"Real","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London , London WC1N 3BG,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4054-7030","authenticated-orcid":false,"given":"Kathryn","family":"Step","sequence":"additional","affiliation":[{"name":"Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town 7505,","place":["South Africa"]},{"name":"South African Medical Research Council Centre for Tuberculosis Research, Stellenbosch University , Cape Town 7505,","place":["South Africa"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7162-9821","authenticated-orcid":false,"given":"Lara M","family":"Lange","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892,","place":["United States"]},{"name":"Institute of Neurogenetics, University of Luebeck , Luebeck 23562,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5464-5603","authenticated-orcid":false,"given":"Lesley","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London , London WC1N 3BG,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1519-1535","authenticated-orcid":false,"given":"Miriam","family":"Ostrozovicova","sequence":"additional","affiliation":[{"name":"Department of Neurology, P.J. Safarik University, Kosice 04011,","place":["Slovak Republic"]},{"name":"Department of Neurology, University Hospital of L. Pasteur , Kosice 04011,","place":["Slovak Republic"]},{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine M","family":"Andersh","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pin-Jui","family":"Kung","sequence":"additional","affiliation":[{"name":"Genome and Systems Biology Degree Program, National Taiwan University and Academia Sinica , Taipei 106319,","place":["Taiwan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasser","family":"Mecheri","sequence":"additional","affiliation":[{"name":"Neurology Department, Benbadis University Hospital , Constantine 25018,","place":["Algeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Wen","family":"Tay","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine, University of Malaya , Kuala Lumpur 50603,","place":["Malaysia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Behloul","family":"Soundous Malek","sequence":"additional","affiliation":[{"name":"Neurology Department, Benbadis University Hospital , Constantine 25018,","place":["Algeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-0334","authenticated-orcid":false,"given":"Nada","family":"Al Tassan","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center , Riyadh 12713,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Peri\u00f1an","sequence":"additional","affiliation":[{"name":"Centre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University of London , London E1 4NS,","place":["United Kingdom"]},{"name":"Unidad de Trastornos del Movimiento, Servicio de Neurolog\u00eda y Neurofisiolog\u00eda Cl\u00ednica, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla, CSIC, Universidad de Sevilla , Seville 41013,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Hong","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathew J","family":"Koretsky","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"DataTecnica LLC , Washington, DC 20037,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lana","family":"Sargeant","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892,","place":["United States"]},{"name":"School of Nursing, Virginia Commonwealth University , Richmond, VA 23298,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Levine","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"DataTecnica LLC , Washington, DC 20037,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelis","family":"Blauwendraat","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8003-4029","authenticated-orcid":false,"given":"Kimberley J","family":"Billingsley","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0056-1361","authenticated-orcid":false,"given":"Sara","family":"Bandres-Ciga","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2390-8110","authenticated-orcid":false,"given":"Hampton L","family":"Leonard","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"DataTecnica LLC , Washington, DC 20037,","place":["United States"]},{"name":"German Center for Neurodegenerative Diseases (DZNE) , T\u00fcbingen 72076,","place":["Germany"]},{"name":"Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of T\u00fcbingen , T\u00fcbingen 72074,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soraya","family":"Bardien","sequence":"additional","affiliation":[{"name":"Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town 7505,","place":["South Africa"]},{"name":"South African Medical Research Council Centre for Tuberculosis Research, Stellenbosch University , Cape Town 7505,","place":["South Africa"]},{"name":"Stellenbosch University Genomics of Brain Disorders Research Unit, South African Medical Research Council, Stellenbosch University , Cape Town 7599,","place":["South Africa"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5473-3774","authenticated-orcid":false,"given":"Huw R","family":"Morris","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London , London WC1N 3BG,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew B","family":"Singleton","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike A","family":"Nalls","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"DataTecnica LLC , Washington, DC 20037,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0637-3671","authenticated-orcid":false,"given":"Dan","family":"Vitale","sequence":"additional","affiliation":[{"name":"National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Center for Alzheimer\u2019s and Related Dementias (CARD), , Bethesda, MD 20892,","place":["United States"]},{"name":"DataTecnica LLC , Washington, DC 20037,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"key":"2026082420462548700_vbag205-B1","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.ajhg.2019.07.001","article-title":"Phenome-wide burden of copy-number variation in the UK biobank","volume":"105","author":"Aguirre","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2026082420462548700_vbag205-B2","doi-asserted-by":"publisher","first-page":"600","DOI":"10.3390\/genes14030600","article-title":"Microdeletion or duplications have been implicated in different neurological disorders including early onset Parkinson disease","volume":"14","author":"Ahmad","year":"2023","journal-title":"Genes (Basel)"},{"key":"2026082420462548700_vbag205-B3","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13073-023-01265-5","article-title":"Rare copy-number variants as modulators of common disease susceptibility","volume":"16","author":"Auwerx","year":"2024","journal-title":"Genome Med"},{"key":"2026082420462548700_vbag205-B4","doi-asserted-by":"crossref","first-page":"110962","DOI":"10.1016\/j.ygeno.2024.110962","article-title":"A systematic benchmark of copy number variation detection tools for high density SNP genotyping arrays","volume":"116","author":"Baardwijk","year":"2024","journal-title":"Genomics"},{"key":"2026082420462548700_vbag205-B5","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1126\/science.1072047","article-title":"Recent segmental duplications in the human genome","volume":"297","author":"Bailey","year":"2002","journal-title":"Science (New York, N.Y.)"},{"key":"2026082420462548700_vbag205-B6","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1002\/mds.29902","article-title":"NeuroBooster array: a genome-wide genotyping platform to study neurological disorders across diverse populations","volume":"39","author":"Bandres-Ciga","year":"2024","journal-title":"Mov Disord"},{"key":"2026082420462548700_vbag205-B7","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/ana.26608","article-title":"Genome-wide analysis of structural variants in Parkinson disease","volume":"93","author":"Billingsley","year":"2023","journal-title":"Ann Neurol"},{"key":"2026082420462548700_vbag205-B8","doi-asserted-by":"crossref","first-page":"105182","DOI":"10.1016\/j.nbd.2020.105182","article-title":"A population scale analysis of rare SNCA variation in the UK biobank","volume":"148","author":"Blauwendraat","year":"2021","journal-title":"Neurobiol Dis"},{"key":"2026082420462548700_vbag205-B9","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1038\/ng.2334","article-title":"Structural haplotypes and recent evolution of the human 17q21.31 region","volume":"44","author":"Boettger","year":"2012","journal-title":"Nat Genet"},{"key":"2026082420462548700_vbag205-B10","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1002\/mdc3.70057","article-title":"Deep brain stimulation improves symptoms in an individual with alpha-synuclein-gene-associated Parkinson\u2019s disease","volume":"12","author":"Braun","year":"2025","journal-title":"Mov Disord Clin Pract"},{"key":"2026082420462548700_vbag205-B11","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.gde.2013.03.004","article-title":"Microdeletion syndromes","volume":"23","author":"Carvill","year":"2013","journal-title":"Curr Opin Genet Dev"},{"key":"2026082420462548700_vbag205-B12","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"2026082420462548700_vbag205-B13","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1093\/nar\/gkm076","article-title":"QuantiSNP: an objective bayes Hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data","volume":"35","author":"Colella","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"2026082420462548700_vbag205-B14","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1016\/j.cell.2022.06.036","article-title":"A cross-disorder dosage sensitivity map of the human genome","volume":"185","author":"Collins","year":"2022","journal-title":"Cell"},{"key":"2026082420462548700_vbag205-B15","doi-asserted-by":"crossref","first-page":"e105","DOI":"10.1093\/nar\/gkq040","article-title":"Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays","volume":"38","author":"Dellinger","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"2026082420462548700_vbag205-B16","doi-asserted-by":"crossref","first-page":"e126","DOI":"10.1093\/nar\/gkn556","article-title":"Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms","volume":"36","author":"Diskin","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"2026082420462548700_vbag205-B17","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/mds.28494","article-title":"GP2: the global Parkinson\u2019s genetics program","volume":"36","author":"Global Parkinson\u2019s Genetics Program","year":"2021","journal-title":"Mov Disord"},{"key":"2026082420462548700_vbag205-B18","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ygeno.2017.01.005","article-title":"Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis","volume":"109","author":"Guo","year":"2017","journal-title":"Genomics"},{"key":"2026082420462548700_vbag205-B19","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.parkreldis.2011.09.022","article-title":"Mutations in the parkin gene are a minor cause of Parkinson\u2019s disease in the South African population","volume":"18","author":"Haylett","year":"2012","journal-title":"Parkinsonism Relat Disord"},{"key":"2026082420462548700_vbag205-B20","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1162\/neco.1997.9.8.1735","article-title":"Long short-term memory","volume":"9","author":"Hochreiter","year":"1997","journal-title":"Neural Comput"},{"key":"2026082420462548700_vbag205-B21","doi-asserted-by":"crossref","first-page":"5637","DOI":"10.1093\/hmg\/ddv277","article-title":"Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson\u2019s disease","volume":"24","author":"Huttenlocher","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2026082420462548700_vbag205-B22","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1002\/mds.28549","article-title":"Accelerating medicines partnership: Parkinson\u2019s disease. Genetic resource","volume":"36","author":"Iwaki","year":"2021","journal-title":"Mov Disord"},{"key":"2026082420462548700_vbag205-B23","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1186\/1471-2164-13-458","article-title":"Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner","volume":"13","author":"Jong","year":"2012","journal-title":"BMC Genomics"},{"key":"2026082420462548700_vbag205-B24","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/mp.2015.23","article-title":"A novel Alzheimer disease locus located near the gene encoding tau protein","volume":"21","author":"Jun","year":"2016","journal-title":"Mol Psychiatry"},{"key":"2026082420462548700_vbag205-B25","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s10048-009-0229-6","article-title":"Analysis of exon dosage using MLPA in South African Parkinson\u2019s disease patients","volume":"11","author":"Keyser","year":"2010","journal-title":"Neurogenetics"},{"key":"2026082420462548700_vbag205-B26","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1016\/j.jalz.2016.05.002","article-title":"MAPT haplotype H1G is associated with increased risk of dementia with lewy bodies","volume":"12","author":"Labb\u00e9","year":"2016","journal-title":"Alzheimers Dement"},{"key":"2026082420462548700_vbag205-B27","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1186\/s12864-021-08082-3","article-title":"Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data","volume":"22","author":"Lavrichenko","year":"2021","journal-title":"BMC Genomics"},{"key":"2026082420462548700_vbag205-B28","first-page":"2078","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2026082420462548700_vbag205-B29","first-page":"1.27.1","article-title":"Analyzing copy number variation using SNP array data: protocols for calling CNV and association tests","volume":"79","author":"Lin","year":"2013","journal-title":"Curr Protoc Hum Genet"},{"key":"2026082420462548700_vbag205-B30","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1159\/000324683","article-title":"Copy number variation accuracy in Genome-Wide association studies","volume":"71","author":"Lin","year":"2011","journal-title":"Hum Hered"},{"key":"2026082420462548700_vbag205-B31","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1097\/GIM.0b013e31815bf97c","article-title":"Genetics of Parkinson disease","volume":"9","author":"Pankratz","year":"2007","journal-title":"Genet Med"},{"key":"2026082420462548700_vbag205-B32","doi-asserted-by":"crossref","first-page":"138","DOI":"10.3389\/fgene.2015.00138","article-title":"Whole-genome CNV analysis: advances in computational approaches","volume":"6","author":"Pirooznia","year":"2015","journal-title":"Front Genet"},{"key":"2026082420462548700_vbag205-B33","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.bj.2021.02.003","article-title":"DNA copy number variation: main characteristics, evolutionary significance, and pathological aspects","volume":"44","author":"P\u00f6s","year":"2021","journal-title":"Biomed J"},{"key":"2026082420462548700_vbag205-B34","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for Whole-Genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2026082420462548700_vbag205-B35","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1038\/s41587-023-02024-y","article-title":"Detection of mosaic and population-level structural variants with Sniffles2","volume":"42","author":"Smolka","year":"2024","journal-title":"Nat Biotechnol"},{"key":"2026082420462548700_vbag205-B36","doi-asserted-by":"publisher","first-page":"257","DOI":"10.26599\/BSA.2021.9050018","article-title":"Implication of the LINGO2 gene in the predisposition to movement disorders","volume":"7","author":"Soraya","year":"2021","journal-title":"Brain Sci Adv"},{"key":"2026082420462548700_vbag205-B37","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","article-title":"Genome architecture, rearrangements and genomic disorders","volume":"18","author":"Stankiewicz","year":"2002","journal-title":"Trends Genet"},{"key":"2026082420462548700_vbag205-B38","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/s41531-024-00778-z","article-title":"Parkinson\u2019s families project: a UK-Wide study of early onset and familial Parkinson\u2019s disease","volume":"10","author":"Towns","year":"2024","journal-title":"NPJ Parkinson\u2019s Dis"},{"key":"2026082420462548700_vbag205-B39","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/s10048-010-0241-x","article-title":"LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease","volume":"11","author":"Vilari\u00f1o-G\u00fcell","year":"2010","journal-title":"Neurogenetics"},{"key":"2026082420462548700_vbag205-B40","doi-asserted-by":"publisher","DOI":"10.1093\/g3journal\/jkae268","article-title":"GenoTools: an Open-Source python package for efficient genotype data quality control and analysis","volume":"15","author":"Vitale","year":"2025","journal-title":"G3 (Bethesda)"},{"key":"2026082420462548700_vbag205-B41","doi-asserted-by":"crossref","first-page":"1073905","DOI":"10.3389\/fnagi.2022.1073905","article-title":"The role of structural variations in Alzheimer\u2019s disease and other neurodegenerative diseases","volume":"14","author":"Wang","year":"2022","journal-title":"Front Aging Neurosci"},{"key":"2026082420462548700_vbag205-B42","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1101\/gr.6861907","article-title":"PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in Whole-Genome SNP genotyping data","volume":"17","author":"Wang","year":"2007","journal-title":"Genome Res"},{"key":"2026082420462548700_vbag205-B43","doi-asserted-by":"crossref","first-page":"44994","DOI":"10.18632\/oncotarget.16690","article-title":"Meta-analysis of the association between variants in MAPT and neurodegenerative diseases","volume":"8","author":"Zhang","year":"2017","journal-title":"Oncotarget"},{"key":"2026082420462548700_vbag205-B44","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/bib\/bbx012","article-title":"Strategies for processing and quality control of Illumina genotyping arrays","volume":"19","author":"Zhao","year":"2018","journal-title":"Brief Bioinform"},{"key":"2026082420462548700_vbag205-B45","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.1093\/brain\/awab456","article-title":"Heterozygous PRKN mutations are common but do not increase the risk of Parkinson\u2019s disease","volume":"145","author":"Zhu","year":"2022","journal-title":"Brain"}],"container-title":["Bioinformatics Advances"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformaticsadvances\/advance-article-pdf\/doi\/10.1093\/bioadv\/vbag205\/69799172\/vbag205.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformaticsadvances\/article-pdf\/6\/1\/vbag205\/69799172\/vbag205.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformaticsadvances\/article-pdf\/6\/1\/vbag205\/69799172\/vbag205.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:46:40Z","timestamp":1787618800000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformaticsadvances\/article\/doi\/10.1093\/bioadv\/vbag205\/8739915"}},"subtitle":[],"editor":[{"given":"Dmitrij","family":"Frishman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":45,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,7]]}},"URL":"https:\/\/doi.org\/10.1093\/bioadv\/vbag205","relation":{},"ISSN":["2635-0041"],"issn-type":[{"value":"2635-0041","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026]]},"published":{"date-parts":[[2026]]},"article-number":"vbag205"}}