{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T01:32:23Z","timestamp":1780536743141,"version":"3.54.1"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T00:00:00Z","timestamp":1736294400000},"content-version":"vor","delay-in-days":47,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"National Institute for Health Research (NIHR) Oxford Biomedical Research Centre"},{"name":"Virtual Brain Cloud from European Commission","award":["H2020-SC1-DTH-2018-1"],"award-info":[{"award-number":["H2020-SC1-DTH-2018-1"]}]},{"name":"John Fell Foundation","award":["0010659"],"award-info":[{"award-number":["0010659"]}]},{"DOI":"10.13039\/100005205","name":"Janssen Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005205","id-type":"DOI","asserted-by":"publisher"}]},{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine"},{"DOI":"10.13039\/501100002283","name":"Alzheimer\u2019s Research UK","doi-asserted-by":"publisher","award":["ARUK-PhD2022-031"],"award-info":[{"award-number":["ARUK-PhD2022-031"]}],"id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Augmenting traditional genome-wide association studies (GWAS) with advanced machine learning algorithms can allow the detection of novel signals in available cohorts. We introduce \u201cgenome-wide association neural networks (GWANN)\u201d a novel approach that uses neural networks (NNs) to perform a gene-level association study with family history of Alzheimer\u2019s disease (AD). In UK Biobank, we defined cases (n\u2009=\u200942\u00a0110) as those with AD or family history of AD and sampled an equal number of controls. The data was split into an 80:20 ratio of training and testing samples, and GWANN was trained on the former followed by identifying associated genes using its performance on the latter. Our method identified 18 genes to be associated with family history of AD. APOE, BIN1, SORL1, ADAM10, APH1B, and SPI1 have been identified by previous AD GWAS. Among the 12 new genes, PCDH9, NRG3, ROR1, LINGO2, SMYD3, and LRRC7 have been associated with neurofibrillary tangles or phosphorylated tau in previous studies. Furthermore, there is evidence for differential transcriptomic or proteomic expression between AD and healthy brains for 10 of the 12 new genes. A series of post hoc analyses resulted in a significantly enriched protein\u2013protein interaction network (P-value\u2009&amp;lt;\u20091\u2009\u00d7\u200910\u221216), and enrichment of relevant disease and biological pathways such as focal adhesion (P-value\u2009=\u20091\u2009\u00d7\u200910\u22124), extracellular matrix organization (P-value\u2009=\u20091\u2009\u00d7\u200910\u22124), Hippo signaling (P-value\u2009=\u20097\u2009\u00d7\u200910\u22124), Alzheimer\u2019s disease (P-value\u2009=\u20093\u2009\u00d7\u200910\u22124), and impaired cognition (P-value\u2009=\u20094\u2009\u00d7\u200910\u22123). Applying NNs for GWAS illustrates their potential to complement existing algorithms and methods and enable the discovery of new associations without the need to expand existing cohorts.<\/jats:p>","DOI":"10.1093\/bib\/bbae704","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T15:29:03Z","timestamp":1734967743000},"source":"Crossref","is-referenced-by-count":10,"title":["Genome-wide association neural networks identify genes linked to family history of Alzheimer\u2019s disease"],"prefix":"10.1093","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5176-3193","authenticated-orcid":false,"given":"Upamanyu","family":"Ghose","sequence":"first","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]},{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Sproviero","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Winchester","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najaf","family":"Amin","sequence":"additional","affiliation":[{"name":"Nuffield Department of Population Health, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taiyu","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Newby","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]},{"name":"Centre for Statistics in Medicine, Nuffield Department of Orthopedics, Rheumatology and Musculoskeletal Sciences, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany S","family":"Ulm","sequence":"additional","affiliation":[{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]},{"name":"Nuffield Department of Population Health, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeliki","family":"Papathanasiou","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liu","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]},{"name":"Department of Translational Medicine, Nxera Pharma UK Limited , Cambridge ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]},{"name":"School of Engineering Mathematics and Technology University of Bristol, Ada Lovelace Building , Bristol ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]},{"name":"School of Medicine, University of St Andrews , St Andrews ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Adams","sequence":"additional","affiliation":[{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]},{"name":"Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwag","family":"Albukhari","sequence":"additional","affiliation":[{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]},{"name":"Biochemistry Department, Faculty of Science, King Abdulaziz University , Jeddah ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Almansouri","sequence":"additional","affiliation":[{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]},{"name":"Clinical Biochemistry Department, Faculty of Medicine, King Abdulaziz University , Jeddah ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hani","family":"Choudhry","sequence":"additional","affiliation":[{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]},{"name":"Biochemistry Department, Faculty of Science, King Abdulaziz University , Jeddah ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"van Duijn","sequence":"additional","affiliation":[{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]},{"name":"Nuffield Department of Population Health, University of Oxford , Oxford ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejo","family":"Nevado-Holgado","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Oxford , Oxford ,","place":["United Kingdom"]},{"name":"King Abdulaziz University and the University of Oxford Centre for Artificial Intelligence in Precision Medicine (KO-CAIPM) , Jeddah ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,1,8]]},"reference":[{"key":"2025010810581658800_ref1"},{"key":"2025010810581658800_ref2","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1056\/NEJMra0909142","article-title":"Alzheimer\u2019s disease","volume":"362","author":"Querfurth","year":"2010","journal-title":"N Engl J Med"},{"key":"2025010810581658800_ref3","doi-asserted-by":"publisher","first-page":"D1005","DOI":"10.1093\/nar\/gky1120","article-title":"The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019","volume":"47","author":"Buniello","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2025010810581658800_ref4","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1038\/nature08494","article-title":"Finding the missing heritability of complex diseases","volume":"461","author":"Manolio","year":"2009","journal-title":"Nature"},{"key":"2025010810581658800_ref5","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/j.ajhg.2011.11.029","article-title":"Five years of GWAS discovery","volume":"90","author":"Visscher","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2025010810581658800_ref6","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1016\/j.ajhg.2011.05.029","article-title":"Rare-variant association testing for sequencing data with the sequence kernel association test","volume":"89","author":"Wu","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2025010810581658800_ref7","doi-asserted-by":"publisher","first-page":"e2105191118","DOI":"10.1073\/pnas.2105191118","article-title":"Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes","volume":"118","author":"Ma","year":"2021","journal-title":"Proc Natl Acad Sci"},{"key":"2025010810581658800_ref8","doi-asserted-by":"publisher","first-page":"e1004219","DOI":"10.1371\/journal.pcbi.1004219","article-title":"MAGMA: Generalized gene-set analysis of GWAS data","volume":"11","author":"Leeuw","year":"2015","journal-title":"PLoS Comput Biol"},{"key":"2025010810581658800_ref9","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1038\/ng.2802","article-title":"Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer\u2019s disease","volume":"45","author":"Lambert","year":"2013","journal-title":"Nat Genet"},{"key":"2025010810581658800_ref10","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1038\/s41588-019-0358-2","article-title":"Genetic meta-analysis of diagnosed Alzheimer\u2019s disease identifies new risk loci and implicates A\u03b2, tau, immunity and lipid processing","volume":"51","author":"Kunkle","year":"2019","journal-title":"Nat Genet"},{"key":"2025010810581658800_ref11","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1038\/s41588-021-00921-z","article-title":"A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer\u2019s disease","volume":"53","author":"Wightman","year":"2021","journal-title":"Nat Genet"},{"key":"2025010810581658800_ref12","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1038\/s41588-022-01024-z","article-title":"New insights into the genetic etiology of Alzheimer\u2019s disease and related dementias","volume":"54","author":"Bellenguez","year":"2022","journal-title":"Nat Genet"},{"key":"2025010810581658800_ref13","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/nmeth.3707","article-title":"Deep learning","volume":"13","author":"Rusk","year":"2016","journal-title":"Nat Methods"},{"key":"2025010810581658800_ref14","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1038\/s41588-018-0295-5","article-title":"A primer on deep learning in genomics","volume":"51","author":"Zou","year":"2019","journal-title":"Nat Genet"},{"key":"2025010810581658800_ref15","doi-asserted-by":"publisher","first-page":"11632","DOI":"10.1038\/s41598-024-62513-1","article-title":"Stacked neural network for predicting polygenic risk score","volume":"14","author":"Kim","year":"2024","journal-title":"Sci Rep"},{"key":"2025010810581658800_ref16","doi-asserted-by":"publisher","first-page":"1425","DOI":"10.3233\/JAD-230236","article-title":"Epistatic features and machine learning improve Alzheimer\u2019s disease risk prediction over polygenic risk scores","volume":"99","author":"Hermes","year":"2024","journal-title":"J Alzheimers Dis"},{"key":"2025010810581658800_ref17","doi-asserted-by":"publisher","first-page":"109209","DOI":"10.1016\/j.isci.2024.109209","article-title":"AI-enabled evaluation of genome-wide association relevance and polygenic risk score prediction in Alzheimer\u2019s disease","volume":"27","author":"Platt","year":"2024","journal-title":"iScience"},{"key":"2025010810581658800_ref18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s42003-021-02622-z","article-title":"GenNet framework: Interpretable deep learning for predicting phenotypes from genetic data","volume":"4","author":"Hilten","year":"2021","journal-title":"Commun Biol"},{"key":"2025010810581658800_ref19","doi-asserted-by":"publisher","first-page":"e1001779","DOI":"10.1371\/journal.pmed.1001779","article-title":"UK biobank: An open access resource for identifying the causes of a wide range of complex diseases of middle and old age","volume":"12","author":"Sudlow","year":"2015","journal-title":"PLoS Med"},{"key":"2025010810581658800_ref20","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1038\/s41398-018-0150-6","article-title":"GWAS on family history of Alzheimer\u2019s disease","volume":"8","author":"Marioni","year":"2018","journal-title":"Transl Psychiatry"},{"key":"2025010810581658800_ref21","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/s41588-018-0311-9","article-title":"Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer\u2019s disease risk","volume":"51","author":"Jansen","year":"2019","journal-title":"Nat Genet"},{"key":"2025010810581658800_ref22","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"key":"2025010810581658800_ref23","doi-asserted-by":"publisher","first-page":"8111","DOI":"10.1038\/ncomms9111","article-title":"Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel","volume":"6","author":"Huang","year":"2015","journal-title":"Nat Commun"},{"key":"2025010810581658800_ref24","doi-asserted-by":"publisher","first-page":"e2525","DOI":"10.1002\/brb3.2525","article-title":"The relationship between isolated hypertension with brain volumes in UK biobank","volume":"12","author":"Newby","year":"2022","journal-title":"Brain Behav"},{"key":"2025010810581658800_ref25","doi-asserted-by":"publisher","first-page":"s13742-015-0047\u20138","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":"2025010810581658800_ref26","doi-asserted-by":"publisher","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc Natl Acad Sci"},{"key":"2025010810581658800_ref27","doi-asserted-by":"publisher","first-page":"1739","DOI":"10.1093\/bioinformatics\/btr260","article-title":"Molecular signatures database (MSigDB) 3.0","volume":"27","author":"Liberzon","year":"2011","journal-title":"Bioinformatics"},{"key":"2025010810581658800_ref28","doi-asserted-by":"publisher","first-page":"D845","DOI":"10.1093\/nar\/gkz1021","article-title":"The DisGeNET knowledge platform for disease genomics: 2019 update","volume":"48","author":"Pi\u00f1ero","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"2025010810581658800_ref29","doi-asserted-by":"publisher","first-page":"D638","DOI":"10.1093\/nar\/gkac1000","article-title":"The STRING database in 2023: Protein-protein association networks and functional enrichment analyses for any sequenced genome of interest","volume":"51","author":"Szklarczyk","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"2025010810581658800_ref30","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.3233\/JAD-181085","article-title":"A meta-analysis of Alzheimer\u2019s disease brain transcriptomic data","volume":"68","author":"Patel","year":"2019","journal-title":"J Alzheimers Dis"},{"key":"2025010810581658800_ref31","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1016\/j.bbi.2019.05.009","article-title":"Transcriptomic analysis of probable asymptomatic and symptomatic alzheimer brains","volume":"80","author":"Patel","year":"2019","journal-title":"Brain Behav Immun"},{"key":"2025010810581658800_ref32","doi-asserted-by":"publisher","first-page":"e0232644","DOI":"10.1371\/journal.pone.0232644","article-title":"TargetDB: A target information aggregation tool and tractability predictor","volume":"15","author":"De Cesco","year":"2020","journal-title":"PLoS One"},{"key":"2025010810581658800_ref33","doi-asserted-by":"publisher","first-page":"D1302","DOI":"10.1093\/nar\/gkaa1027","article-title":"Open targets platform: Supporting systematic drug-target identification and prioritisation","volume":"49","author":"Ochoa","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"2025010810581658800_ref34","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1186\/gm452","article-title":"Genes and pathways underlying regional and cell type changes in Alzheimer\u2019s disease","volume":"5","author":"Miller","year":"2013","journal-title":"Genome Med"},{"key":"2025010810581658800_ref35","doi-asserted-by":"publisher","first-page":"25796","DOI":"10.3402\/pba.v5.25796","article-title":"LINGO-1 promotes lysosomal degradation of amyloid-\u03b2 protein precursor","volume":"5","author":"Laat","year":"2015","journal-title":"Pathobiol Aging Age Relat Dis"},{"key":"2025010810581658800_ref36","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1007\/s11357-019-00071-5","article-title":"Genetic heterogeneity of Alzheimer\u2019s disease in subjects with and without hypertension","volume":"41","author":"Nazarian","year":"2019","journal-title":"GeroScience"},{"key":"2025010810581658800_ref37","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1038\/mp.2010.123","article-title":"Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer\u2019s disease","volume":"16","author":"Furney","year":"2011","journal-title":"Mol Psychiatry"},{"key":"2025010810581658800_ref38","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/j.aanat.2006.06.013","article-title":"A role for synaptopodin and the spine apparatus in hippocampal synaptic plasticity","volume":"189","author":"Deller","year":"2007","journal-title":"Ann Anat Anat Anz Off Organ Anat Ges"},{"key":"2025010810581658800_ref39","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1080\/15548627.2019.1580096","article-title":"BAG3 and SYNPO (synaptopodin) facilitate phospho-MAPT\/tau degradation via autophagy in neuronal processes","volume":"15","author":"Ji","year":"2019","journal-title":"Autophagy"},{"key":"2025010810581658800_ref40","doi-asserted-by":"publisher","first-page":"R318","DOI":"10.1016\/j.cub.2017.02.061","volume":"27","author":"Kast","year":"2017","journal-title":"Curr Biol"},{"key":"2025010810581658800_ref41","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s13041-017-0316-9","article-title":"An iTRAQ-based proteomic analysis reveals dysregulation of neocortical synaptopodin in Lewy body dementias","volume":"10","author":"Datta","year":"2017","journal-title":"Mol Brain"},{"key":"2025010810581658800_ref42","doi-asserted-by":"publisher","first-page":"19254","DOI":"10.1038\/s41598-021-98882-0","article-title":"Receptor tyrosine kinase ROR1 ameliorates A\u03b21\u201342 induced cytoskeletal instability and is regulated by the miR146a-NEAT1 nexus in Alzheimer\u2019s disease","volume":"11","author":"Chanda","year":"2021","journal-title":"Sci Rep"},{"key":"2025010810581658800_ref43","doi-asserted-by":"publisher","first-page":"573","DOI":"10.3233\/JAD-215217","article-title":"5-Hydroxymethylcytosine signatures in circulating cell-free DNA as diagnostic biomarkers for late-onset\u00a0alzheimer\u2019s disease","volume":"85","author":"Chen","year":"2022","journal-title":"J Alzheimers Dis"},{"key":"2025010810581658800_ref44","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.3390\/ph15101177","article-title":"FTH1- and SAT1-induced astrocytic ferroptosis is involved in Alzheimer\u2019s disease: Evidence from single-cell transcriptomic analysis","volume":"15","author":"Dang","year":"2022","journal-title":"Pharmaceuticals"},{"key":"2025010810581658800_ref45","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1007\/s00702-013-1091-0","article-title":"NRG3 gene is associated with the risk and age at onset of Alzheimer disease","volume":"121","author":"Wang","year":"2014","journal-title":"J Neural Transm"},{"key":"2025010810581658800_ref46","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1002\/alz.12106","article-title":"Genome-wide association study of rate of cognitive decline in Alzheimer\u2019s disease patients identifies novel genes and pathways","volume":"16","author":"Sherva","year":"2020","journal-title":"Alzheimers Dement (N Y)"},{"key":"2025010810581658800_ref47","doi-asserted-by":"publisher","first-page":"104290","DOI":"10.1016\/j.ebiom.2022.104290","article-title":"Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology","volume":"85","author":"Clark","year":"2022","journal-title":"EBioMedicine"},{"key":"2025010810581658800_ref48","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1038\/s41467-022-35749-6","article-title":"Inhibition of histone methyltransferase Smyd3 rescues NMDAR and cognitive deficits in a tauopathy mouse model","volume":"14","author":"Williams","year":"2023","journal-title":"Nat Commun"},{"key":"2025010810581658800_ref49","doi-asserted-by":"publisher","first-page":"eadj1424","DOI":"10.1126\/sciadv.adj1424","article-title":"Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK biobank data","volume":"10","author":"Middleton","year":"2024","journal-title":"Sci Adv"},{"key":"2025010810581658800_ref50","doi-asserted-by":"publisher","first-page":"1821","DOI":"10.1038\/s41588-024-01898-1","article-title":"Disease prediction with multi-omics and biomarkers empowers case\u2013control genetic discoveries in the UK biobank","volume":"56","author":"Garg","year":"2024","journal-title":"Nat Genet"},{"key":"2025010810581658800_ref51"},{"key":"2025010810581658800_ref52","author":"Kokhlikyan","year":"2020"}],"container-title":["Briefings in Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bib\/article-pdf\/26\/1\/bbae704\/61372962\/bbae704.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bib\/article-pdf\/26\/1\/bbae704\/61372962\/bbae704.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T05:58:48Z","timestamp":1736315928000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bib\/article\/doi\/10.1093\/bib\/bbae704\/7945355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,22]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,11,22]]}},"URL":"https:\/\/doi.org\/10.1093\/bib\/bbae704","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.06.10.22276251","asserted-by":"object"}]},"ISSN":["1467-5463","1477-4054"],"issn-type":[{"value":"1467-5463","type":"print"},{"value":"1477-4054","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,1]]},"published":{"date-parts":[[2024,11,22]]},"article-number":"bbae704"}}