{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T04:39:31Z","timestamp":1793939971520,"version":"4.8.0"},"reference-count":61,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T00:00:00Z","timestamp":1710979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T00:00:00Z","timestamp":1710979200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100000049","name":"U.S. Department of Health & Human Services | NIH | National Institute on Aging","doi-asserted-by":"publisher","award":["U01AG061356"],"award-info":[{"award-number":["U01AG061356"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"U.S. Department of Health & Human Services | NIH | National Institute on Aging","doi-asserted-by":"publisher","award":["RF1AG057473"],"award-info":[{"award-number":["RF1AG057473"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"U.S. Department of Health & Human Services | NIH | National Institute on Aging","doi-asserted-by":"publisher","award":["U01AG046152"],"award-info":[{"award-number":["U01AG046152"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"U.S. Department of Health & Human Services | NIH | National Institute on Aging","doi-asserted-by":"publisher","award":["R01AG066831"],"award-info":[{"award-number":["R01AG066831"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"U.S. Department of Health & Human Services | NIH | National Institute on Aging","doi-asserted-by":"publisher","award":["U01AG061356"],"award-info":[{"award-number":["U01AG061356"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"U.S. Department of Health & Human Services | NIH | National Institute on Aging","doi-asserted-by":"publisher","award":["U01AG046152"],"award-info":[{"award-number":["U01AG046152"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"U.S. Department of Health & Human Services | NIH | National Institute on Aging","doi-asserted-by":"publisher","award":["R01AG066831"],"award-info":[{"award-number":["R01AG066831"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["K25DK128563"],"award-info":[{"award-number":["K25DK128563"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1038\/s41588-024-01685-y","type":"journal-article","created":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T07:01:57Z","timestamp":1711004517000},"page":"605-614","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":200,"title":["Cell subtype-specific effects of genetic variation in the Alzheimer\u2019s disease brain"],"prefix":"10.1038","volume":"56","author":[{"given":"Masashi","family":"Fujita","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zongmei","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9381-7690","authenticated-orcid":false,"given":"Lu","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristin","family":"McCabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles C.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8688-3873","authenticated-orcid":false,"given":"Bernard","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilad Sahar","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orit","family":"Rozenblatt-Rosen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devan","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liat","family":"Amir-Zilberstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4741-0707","authenticated-orcid":false,"given":"Hyo","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3972-1457","authenticated-orcid":false,"suffix":"II","given":"Richard V.","family":"Pearse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6651-2725","authenticated-orcid":false,"given":"Atlas","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5560-4085","authenticated-orcid":false,"given":"Badri N.","family":"Vardarajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5047-6715","authenticated-orcid":false,"given":"Krzysztof","family":"Kiryluk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6560-3783","authenticated-orcid":false,"given":"Chun Jimmie","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6382-9428","authenticated-orcid":false,"given":"Hans-Ulrich","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3293-3158","authenticated-orcid":false,"given":"Aviv","family":"Regev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6049-2487","authenticated-orcid":false,"given":"Naomi","family":"Habib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9482-1752","authenticated-orcid":false,"given":"Julie A.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8589-4239","authenticated-orcid":false,"given":"Yanling","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7846-1542","authenticated-orcid":false,"given":"Tracy","family":"Young-Pearse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4698-1177","authenticated-orcid":false,"given":"Sara","family":"Mostafavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4096-8601","authenticated-orcid":false,"given":"Vilas","family":"Menon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8057-2505","authenticated-orcid":false,"given":"Philip L.","family":"De Jager","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,21]]},"reference":[{"key":"1685_CR1","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1038\/nature14248","volume":"518","author":"A Kundaje","year":"2015","unstructured":"Kundaje, A. et al. Integrative analysis of 111 reference human epigenomes. Nature 518, 317\u2013330 (2015).","journal-title":"Nature"},{"key":"1685_CR2","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1016\/j.cell.2016.11.007","volume":"167","author":"HG Stunnenberg","year":"2016","unstructured":"Stunnenberg, H. G. et al. The International Human Epigenome Consortium: a blueprint for scientific collaboration and discovery. Cell 167, 1145\u20131149 (2016).","journal-title":"Cell"},{"key":"1685_CR3","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1038\/s41586-020-2493-4","volume":"583","author":"F Abascal","year":"2020","unstructured":"Abascal, F. et al. Expanded encyclopaedias of DNA elements in the human and mouse genomes. Nature 583, 699\u2013710 (2020).","journal-title":"Nature"},{"key":"1685_CR4","doi-asserted-by":"publisher","first-page":"1318","DOI":"10.1126\/science.aaz1776","volume":"369","author":"F Aguet","year":"2020","unstructured":"Aguet, F. et al. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318\u20131330 (2020).","journal-title":"Science"},{"key":"1685_CR5","doi-asserted-by":"publisher","first-page":"1418","DOI":"10.1038\/nn.4632","volume":"20","author":"B Ng","year":"2017","unstructured":"Ng, B. et al. An xQTL map integrates the genetic architecture of the human brain\u2019s transcriptome and epigenome. Nat. Neurosci. 20, 1418\u20131426 (2017).","journal-title":"Nat. Neurosci."},{"key":"1685_CR6","doi-asserted-by":"crossref","unstructured":"Patrick, E. et al. Deconvolving the contributions of cell-type heterogeneity on cortical gene expression. PLoS Comput. Biol. 16, e1008120 (2020).","DOI":"10.1371\/journal.pcbi.1008120"},{"key":"1685_CR7","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-14561-0","volume":"11","author":"MKR Donovan","year":"2020","unstructured":"Donovan, M. K. R., D\u2019Antonio-Chronowska, A., D\u2019Antonio, M. & Frazer, K. A. Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. Nat. Commun. 11, 955 (2020).","journal-title":"Nat. Commun."},{"key":"1685_CR8","doi-asserted-by":"publisher","first-page":"1556","DOI":"10.1038\/nn.4126","volume":"18","author":"G Chan","year":"2015","unstructured":"Chan, G. et al. CD33 modulates TREM2: convergence of Alzheimer loci. Nat. Neurosci. 18, 1556\u20131558 (2015).","journal-title":"Nat. Neurosci."},{"key":"1685_CR9","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1016\/j.cell.2015.02.046","volume":"161","author":"M Roederer","year":"2015","unstructured":"Roederer, M. et al. The genetic architecture of the human immune system: a bioresource for autoimmunity and disease pathogenesis. Cell 161, 387\u2013403 (2015).","journal-title":"Cell"},{"key":"1685_CR10","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1038\/s41588-021-00875-2","volume":"53","author":"AMH Young","year":"2021","unstructured":"Young, A. M. H. et al. A map of transcriptional heterogeneity and regulatory variation in human microglia. Nat. Genet. 53, 861\u2013868 (2021).","journal-title":"Nat. Genet."},{"key":"1685_CR11","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1038\/s41588-021-00976-y","volume":"54","author":"KP Lopes","year":"2022","unstructured":"Lopes, K. P. et al. Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies. Nat. Genet. 54, 4\u201317 (2022).","journal-title":"Nat. Genet."},{"key":"1685_CR12","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1038\/s41593-022-01128-z","volume":"25","author":"J Bryois","year":"2022","unstructured":"Bryois, J. et al. Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders. Nat. Neurosci. 25, 1104\u20131112 (2022).","journal-title":"Nat. Neurosci."},{"key":"1685_CR13","doi-asserted-by":"publisher","unstructured":"Green, G. S. et al. Cellular dynamics across aged human brains uncover a multicellular cascade leading to Alzheimer\u2019s disease. Preprint at bioRxiv https:\/\/doi.org\/10.1101\/2023.03.07.531493 (2023).","DOI":"10.1101\/2023.03.07.531493"},{"key":"1685_CR14","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1038\/nmeth.4407","volume":"14","author":"N Habib","year":"2017","unstructured":"Habib, N. et al. Massively parallel single-nucleus RNA-seq with DroNc-seq. Nat. Methods 14, 955\u2013958 (2017).","journal-title":"Nat. Methods"},{"key":"1685_CR15","doi-asserted-by":"crossref","unstructured":"Cain, A. et al. Multicellular communities are perturbed in the aging human brain and Alzheimer\u2019s disease. Nat. Neurosci. 26, 1267\u20131280 (2023).","DOI":"10.1038\/s41593-023-01356-x"},{"key":"1685_CR16","doi-asserted-by":"publisher","first-page":"S161","DOI":"10.3233\/JAD-179939","volume":"64","author":"DA Bennett","year":"2018","unstructured":"Bennett, D. A. et al. Religious Orders Study and Rush Memory and Aging Project. J. Alzheimers Dis. 64, S161\u2013S189 (2018).","journal-title":"J. Alzheimers Dis."},{"key":"1685_CR17","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1093\/bioinformatics\/bts163","volume":"28","author":"AA Shabalin","year":"2012","unstructured":"Shabalin, A. A. Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Bioinformatics 28, 1353\u20131358 (2012).","journal-title":"Bioinformatics"},{"key":"1685_CR18","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.neurobiolaging.2022.03.011","volume":"115","author":"Y Li","year":"2022","unstructured":"Li, Y., Macyczko, J. R., Liu, C.-C. & Bu, G. ApoE4 reduction: an emerging and promising therapeutic strategy for Alzheimer\u2019s disease. Neurobiol. Aging 115, 20\u201328 (2022).","journal-title":"Neurobiol. Aging"},{"key":"1685_CR19","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1038\/s41588-019-0358-2","volume":"51","author":"BW Kunkle","year":"2019","unstructured":"Kunkle, B. W. et al. Genetic meta-analysis of diagnosed Alzheimer\u2019s disease identifies new risk loci and implicates A\u03b2, tau, immunity and lipid processing. Nat. Genet. 51, 414\u2013430 (2019).","journal-title":"Nat. Genet."},{"key":"1685_CR20","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1038\/s41588-022-01024-z","volume":"54","author":"C Bellenguez","year":"2022","unstructured":"Bellenguez, C. et al. New insights into the genetic etiology of Alzheimer\u2019s disease and related dementias. Nat. Genet. 54, 412\u2013436 (2022).","journal-title":"Nat. Genet."},{"key":"1685_CR21","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1002\/ana.26511","volume":"92","author":"N Joseph-Mathurin","year":"2022","unstructured":"Joseph-Mathurin, N. et al. Amyloid-related imaging abnormalities in the DIAN-TU-001 trial of gantenerumab and solanezumab: lessons from a trial in dominantly inherited Alzheimer disease. Ann. Neurol. 92, 729\u2013744 (2022).","journal-title":"Ann. Neurol."},{"key":"1685_CR22","doi-asserted-by":"publisher","first-page":"3402","DOI":"10.1016\/j.neuron.2021.08.003","volume":"109","author":"VN Lagomarsino","year":"2021","unstructured":"Lagomarsino, V. N. et al. Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors. Neuron 109, 3402\u20133420 (2021).","journal-title":"Neuron"},{"key":"1685_CR23","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/alzrt268","volume":"6","author":"M Allen","year":"2014","unstructured":"Allen, M. et al. Association of MAPT haplotypes with Alzheimer\u2019s disease risk and MAPT brain gene expression levels. Alzheimers Res. Ther. 6, 39 (2014).","journal-title":"Alzheimers Res. Ther."},{"key":"1685_CR24","doi-asserted-by":"publisher","first-page":"e0157452","DOI":"10.1371\/journal.pone.0157452","volume":"11","author":"GT Valenca","year":"2016","unstructured":"Valenca, G. T. et al. The role of MAPT haplotype H2 and isoform 1N\/4R in parkinsonism of older adults. PLoS ONE 11, e0157452 (2016).","journal-title":"PLoS ONE"},{"key":"1685_CR25","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1126\/science.aay0793","volume":"366","author":"A Nott","year":"2019","unstructured":"Nott, A. et al. Brain cell type-specific enhancer\u2013promoter interactome maps and disease-risk association. Science 366, 1134\u20131139 (2019).","journal-title":"Science"},{"key":"1685_CR26","doi-asserted-by":"publisher","first-page":"1246","DOI":"10.1126\/science.1174148","volume":"325","author":"AS Dimas","year":"2009","unstructured":"Dimas, A. S. et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325, 1246\u20131250 (2009).","journal-title":"Science"},{"key":"1685_CR27","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1038\/s41588-018-0154-4","volume":"50","author":"ER Gamazon","year":"2018","unstructured":"Gamazon, E. R. et al. Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Nat. Genet. 50, 956\u2013967 (2018).","journal-title":"Nat. Genet."},{"key":"1685_CR28","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1038\/s41588-021-00921-z","volume":"53","author":"DP Wightman","year":"2021","unstructured":"Wightman, D. P. et al. A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer\u2019s disease. Nat. Genet. 53, 1276\u20131282 (2021).","journal-title":"Nat. Genet."},{"key":"1685_CR29","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/ng.536","volume":"42","author":"VM Van Deerlin","year":"2010","unstructured":"Van Deerlin, V. M. et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat. Genet. 42, 234\u2013239 (2010).","journal-title":"Nat. Genet."},{"key":"1685_CR30","first-page":"100018","volume":"2","author":"eMERGE Consortium.","year":"2021","unstructured":"eMERGE Consortium. Lessons learned from the eMERGE Network: balancing genomics in discovery and practice. HGG Adv. 2, 100018 (2021).","journal-title":"HGG Adv."},{"key":"1685_CR31","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","volume":"562","author":"C Bycroft","year":"2018","unstructured":"Bycroft, C. et al. The UK Biobank resource with deep phenotyping and genomic data. Nature 562, 203\u2013209 (2018).","journal-title":"Nature"},{"key":"1685_CR32","doi-asserted-by":"publisher","first-page":"E4579","DOI":"10.1073\/pnas.1602743113","volume":"113","author":"J Yang","year":"2016","unstructured":"Yang, J., Lee, S. H., Wray, N. R., Goddard, M. E. & Visscher, P. M. GCTA-GREML accounts for linkage disequilibrium when estimating genetic variance from genome-wide SNPs. Proc. Natl Acad. Sci. USA 113, E4579\u2013E4580 (2016).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1685_CR33","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1159\/000486091","volume":"44","author":"K Matsuo","year":"2018","unstructured":"Matsuo, K. et al. Complement activation in capillary cerebral amyloid angiopathy. Dement. Geriatr. Cogn. Disord. 44, 343\u2013353 (2018).","journal-title":"Dement. Geriatr. Cogn. Disord."},{"key":"1685_CR34","doi-asserted-by":"publisher","first-page":"eabd7522","DOI":"10.1126\/scitranslmed.abd7522","volume":"13","author":"M Xiong","year":"2021","unstructured":"Xiong, M. et al. APOE immunotherapy reduces cerebral amyloid angiopathy and amyloid plaques while improving cerebrovascular function. Sci. Transl. Med. 13, eabd7522 (2021).","journal-title":"Sci. Transl. Med."},{"key":"1685_CR35","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1038\/s41588-022-01149-1","volume":"54","author":"R Kosoy","year":"2022","unstructured":"Kosoy, R. et al. Genetics of the human microglia regulome refines Alzheimer\u2019s disease risk loci. Nat. Genet. 54, 1145\u20131154 (2022).","journal-title":"Nat. Genet."},{"key":"1685_CR36","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1038\/s41593-022-01022-8","volume":"25","author":"SE Marsh","year":"2022","unstructured":"Marsh, S. E. et al. Dissection of artifactual and confounding glial signatures by single-cell sequencing of mouse and human brain. Nat. Neurosci. 25, 306\u2013316 (2022).","journal-title":"Nat. Neurosci."},{"key":"1685_CR37","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.brainres.2015.10.005","volume":"1656","author":"SE Sullivan","year":"2017","unstructured":"Sullivan, S. E. & Young-Pearse, T. L. Induced pluripotent stem cells as a discovery tool for Alzheimer\u2019s disease. Brain Res. 1656, 98\u2013106 (2017).","journal-title":"Brain Res."},{"key":"1685_CR38","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1126\/science.1249547","volume":"344","author":"T Raj","year":"2014","unstructured":"Raj, T. et al. Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes. Science 344, 519\u2013523 (2014).","journal-title":"Science"},{"key":"1685_CR39","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1002\/ana.21157","volume":"62","author":"CP Zabetian","year":"2007","unstructured":"Zabetian, C. P. et al. Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson\u2019s disease. Ann. Neurol. 62, 137\u2013144 (2007).","journal-title":"Ann. Neurol."},{"key":"1685_CR40","doi-asserted-by":"publisher","first-page":"343","DOI":"10.3233\/JAD-150555","volume":"49","author":"P Pastor","year":"2016","unstructured":"Pastor, P. et al. MAPT H1 haplotype is associated with late-onset Alzheimer\u2019s disease risk in APOE\u025b4 noncarriers: results from the Dementia Genetics Spanish Consortium. J. Alzheimers Dis. 49, 343\u2013352 (2016).","journal-title":"J. Alzheimers Dis."},{"key":"1685_CR41","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1016\/S1474-4422(19)30320-5","volume":"18","author":"MA Nalls","year":"2019","unstructured":"Nalls, M. A. et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson\u2019s disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 18, 1091\u20131102 (2019).","journal-title":"Lancet Neurol."},{"key":"1685_CR42","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1038\/s41586-022-04434-5","volume":"604","author":"V Trubetskoy","year":"2022","unstructured":"Trubetskoy, V. et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature 604, 502\u2013508 (2022).","journal-title":"Nature"},{"key":"1685_CR43","doi-asserted-by":"publisher","first-page":"e1004383","DOI":"10.1371\/journal.pgen.1004383","volume":"10","author":"C Giambartolomei","year":"2014","unstructured":"Giambartolomei, C. et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. 10, e1004383 (2014).","journal-title":"PLoS Genet."},{"key":"1685_CR44","doi-asserted-by":"publisher","first-page":"646","DOI":"10.2174\/156720512801322663","volume":"9","author":"DA Bennett","year":"2012","unstructured":"Bennett, D. A. et al. Overview and findings from the rush Memory and Aging Project. Curr. Alzheimer Res. 9, 646\u2013663 (2012).","journal-title":"Curr. Alzheimer Res."},{"key":"1685_CR45","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1038\/s41593-018-0154-9","volume":"21","author":"S Mostafavi","year":"2018","unstructured":"Mostafavi, S. et al. A molecular network of the aging human brain provides insights into the pathology and cognitive decline of Alzheimer\u2019s disease. Nat. Neurosci. 21, 811\u2013819 (2018).","journal-title":"Nat. Neurosci."},{"key":"1685_CR46","doi-asserted-by":"publisher","DOI":"10.1038\/sdata.2018.142","volume":"5","author":"PL De Jager","year":"2018","unstructured":"De Jager, P. L. et al. A multi-omic atlas of the human frontal cortex for aging and Alzheimer\u2019s disease research. Sci. Data 5, 180142 (2018).","journal-title":"Sci. Data"},{"key":"1685_CR47","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/nbt.4042","volume":"36","author":"HM Kang","year":"2018","unstructured":"Kang, H. M. et al. Multiplexed droplet single-cell RNA-sequencing using natural genetic variation. Nat. Biotechnol. 36, 89\u201394 (2018).","journal-title":"Nat. Biotechnol."},{"key":"1685_CR48","doi-asserted-by":"publisher","first-page":"3573","DOI":"10.1016\/j.cell.2021.04.048","volume":"184","author":"Y Hao","year":"2021","unstructured":"Hao, Y. et al. Integrated analysis of multimodal single-cell data. Cell 184, 3573\u20133587 (2021).","journal-title":"Cell"},{"key":"1685_CR49","doi-asserted-by":"publisher","first-page":"1","DOI":"10.18637\/jss.v039.i05","volume":"39","author":"N Simon","year":"2011","unstructured":"Simon, N., Friedman, J., Hastie, T. & Tibshirani, R. Regularization paths for Cox\u2019s proportional hazards model via coordinate descent. J. Stat. Softw. 39, 1\u201313 (2011).","journal-title":"J. Stat. Softw."},{"key":"1685_CR50","doi-asserted-by":"publisher","first-page":"1","DOI":"10.18637\/jss.v033.i01","volume":"33","author":"J Friedman","year":"2010","unstructured":"Friedman, J., Hastie, T. & Tibshirani, R. Regularization paths for generalized linear models via coordinate descent. J. Stat. Softw. 33, 1\u201322 (2010).","journal-title":"J. Stat. Softw."},{"key":"1685_CR51","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1016\/j.cels.2019.03.003","volume":"8","author":"CS McGinnis","year":"2019","unstructured":"McGinnis, C. S., Murrow, L. M. & Gartner, Z. J. DoubletFinder: doublet detection in single-cell RNA sequencing data using artificial nearest neighbors. Cell Syst. 8, 329\u2013337 (2019).","journal-title":"Cell Syst."},{"key":"1685_CR52","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559\u2013575 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"1685_CR53","doi-asserted-by":"publisher","first-page":"1636","DOI":"10.1038\/s41588-021-00973-1","volume":"53","author":"W van Rheenen","year":"2021","unstructured":"van Rheenen, W. et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat. Genet. 53, 1636\u20131648 (2021).","journal-title":"Nat. Genet."},{"key":"1685_CR54","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.1038\/s41588-018-0147-3","volume":"50","author":"JJ Lee","year":"2018","unstructured":"Lee, J. J. et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Nat. Genet. 50, 1112\u20131121 (2018).","journal-title":"Nat. Genet."},{"key":"1685_CR55","doi-asserted-by":"publisher","first-page":"1569","DOI":"10.1038\/nn.4398","volume":"19","author":"HHH Adams","year":"2016","unstructured":"Adams, H. H. H. et al. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nat. Neurosci. 19, 1569\u20131582 (2016).","journal-title":"Nat. Neurosci."},{"key":"1685_CR56","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms13624","volume":"8","author":"DP Hibar","year":"2017","unstructured":"Hibar, D. P. et al. Novel genetic loci associated with hippocampal volume. Nat. Commun. 8, 13624 (2017).","journal-title":"Nat. Commun."},{"key":"1685_CR57","doi-asserted-by":"publisher","first-page":"1624","DOI":"10.1038\/s41588-019-0511-y","volume":"51","author":"CL Satizabal","year":"2019","unstructured":"Satizabal, C. L. et al. Genetic architecture of subcortical brain structures in 38,851 individuals. Nat. Genet. 51, 1624\u20131636 (2019).","journal-title":"Nat. Genet."},{"key":"1685_CR58","doi-asserted-by":"publisher","first-page":"eaay6690","DOI":"10.1126\/science.aay6690","volume":"367","author":"KL Grasby","year":"2020","unstructured":"Grasby, K. L. et al. The genetic architecture of the human cerebral cortex. Science 367, eaay6690 (2020).","journal-title":"Science"},{"key":"1685_CR59","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/ng.3506","volume":"48","author":"A Gusev","year":"2016","unstructured":"Gusev, A. et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat. Genet. 48, 245\u2013252 (2016).","journal-title":"Nat. Genet."},{"key":"1685_CR60","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.ajhg.2010.11.011","volume":"88","author":"J Yang","year":"2011","unstructured":"Yang, J., Lee, S. H., Goddard, M. E. & Visscher, P. M. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76\u201382 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"1685_CR61","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1038\/s41588-018-0092-1","volume":"50","author":"A Gusev","year":"2018","unstructured":"Gusev, A. et al. Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nat. Genet. 50, 538\u2013548 (2018).","journal-title":"Nat. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01685-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01685-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01685-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T14:05:17Z","timestamp":1713189917000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01685-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,21]]},"references-count":61,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["1685"],"URL":"https:\/\/doi.org\/10.1038\/s41588-024-01685-y","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,21]]},"assertion":[{"value":"16 December 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 February 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A.R. is a cofounder and equity holder of Celsius Therapeutics, is an equity holder in Immunitas and was a scientific advisory board member of Thermo Fisher Scientific, Syros Pharmaceuticals, Neogene Therapeutics and Asimov until 31 July 2020. Since 1 August 2020, A.R. is an employee of Genentech with equity in Roche. O.R.-R. has been an employee of Genentech since 19 October 2020. She has given many lectures on the subject of single-cell genomics to a wide variety of audiences and, in some cases, received remuneration to cover time and costs. O.R.-R. and A.R. are coinventors on patent applications filed at the Broad Institute of MIT and Harvard related to single-cell genomics. Since 3 May 2021, D.P. is an employee of Genentech with equity in Roche. The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}