{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T14:13:41Z","timestamp":1793283221094,"version":"4.5.0"},"reference-count":77,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T00:00:00Z","timestamp":1732147200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T00:00:00Z","timestamp":1732147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation. We report a genome-wide association study and multi-trait analysis of DCM (14,256 cases) and three left ventricular traits (36,203 UK Biobank participants). We identified 80 genomic risk loci and prioritized 62 putative effector genes, including several with rare variant DCM associations (\n                    <jats:italic>MAP3K7<\/jats:italic>\n                    ,\n                    <jats:italic>NEDD4L<\/jats:italic>\n                    and\n                    <jats:italic>SSPN<\/jats:italic>\n                    ). Using single-nucleus transcriptomics, we identify cellular states, biological pathways, and intracellular communications that drive pathogenesis. We demonstrate that polygenic scores predict DCM in the general population and modify penetrance in carriers of rare DCM variants. Our findings may inform the design of genetic testing strategies that incorporate polygenic background. They also provide insights into the molecular etiology of DCM that may facilitate the development of targeted therapeutics.\n                  <\/jats:p>","DOI":"10.1038\/s41588-024-01952-y","type":"journal-article","created":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T05:03:47Z","timestamp":1732165427000},"page":"2646-2658","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":72,"title":["Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy"],"prefix":"10.1038","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5762-6392","authenticated-orcid":false,"given":"Sean L.","family":"Zheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7422-2288","authenticated-orcid":false,"given":"Albert","family":"Henry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Cannie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0186-4439","authenticated-orcid":false,"given":"Michael","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5445-6906","authenticated-orcid":false,"given":"Kathryn A.","family":"McGurk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Bond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanane","family":"Issa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Francis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"De Marvao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8718-230X","authenticated-orcid":false,"given":"Pantazis I.","family":"Theotokis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2490-9289","authenticated-orcid":false,"given":"Rachel J.","family":"Buchan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0096-9765","authenticated-orcid":false,"given":"Doug","family":"Speed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6529-3161","authenticated-orcid":false,"given":"Erik","family":"Abner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3223-9131","authenticated-orcid":false,"given":"Krishna G.","family":"Aragam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"\u00c4rnl\u00f6v","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Axelsson","family":"Raja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7262-0880","authenticated-orcid":false,"given":"Joshua D.","family":"Backman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Baksi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1165-7767","authenticated-orcid":false,"given":"Paul J. R.","family":"Barton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran J.","family":"Biddinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Boersma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Brandimarto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0316-5866","authenticated-orcid":false,"given":"S\u00f8ren","family":"Brunak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Bundgaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1782-1118","authenticated-orcid":false,"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James P.","family":"Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart A.","family":"Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spiros","family":"Denaxas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5358-4463","authenticated-orcid":false,"given":"Jean-Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander S.","family":"Doney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3383-3984","authenticated-orcid":false,"given":"Perry","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6551-6647","authenticated-orcid":false,"given":"Christian","family":"Erikstrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00f5nu","family":"Esko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0281-3796","authenticated-orcid":false,"given":"Eric H.","family":"Farber-Eger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3319-1937","authenticated-orcid":false,"given":"Chris","family":"Finan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7492-1617","authenticated-orcid":false,"given":"Sophie","family":"Garnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"Ghouse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3423-2021","authenticated-orcid":false,"given":"Vilmantas","family":"Giedraitis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5222-9857","authenticated-orcid":false,"given":"Daniel F.","family":"Gu\u00f0bjartsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Haggerty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Halliday","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1806-2467","authenticated-orcid":false,"given":"Anna","family":"Helgadottir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2279-0624","authenticated-orcid":false,"given":"Harry","family":"Hemingway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans L.","family":"Hillege","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Kardys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Lind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia M.","family":"Lindgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0898-6137","authenticated-orcid":false,"given":"Brandon D.","family":"Lowery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Manisty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth B.","family":"Margulies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2686-729X","authenticated-orcid":false,"given":"Ify R.","family":"Mordi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Morley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1766-0473","authenticated-orcid":false,"given":"Andrew D.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew P.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4774-0853","authenticated-orcid":false,"given":"Mahdad","family":"Noursadeghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5288-3851","authenticated-orcid":false,"given":"Sisse R.","family":"Ostrowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjali T.","family":"Owens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6415-6560","authenticated-orcid":false,"given":"Colin N. A.","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonis","family":"Pantazis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2312-5976","authenticated-orcid":false,"given":"Ole B. V.","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5637-0727","authenticated-orcid":false,"given":"Sanjay K.","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akshay","family":"Shekhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane T.","family":"Smelser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3387-9889","authenticated-orcid":false,"given":"Sundararajan","family":"Srinivasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Stefansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2429-9468","authenticated-orcid":false,"given":"Gar\u00f0ar","family":"Sveinbj\u00f6rnsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2363-8758","authenticated-orcid":false,"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari-Liis","family":"Tammesoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Upasana","family":"Tayal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5872-1850","authenticated-orcid":false,"given":"Maris","family":"Teder-Laving","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7146-1395","authenticated-orcid":false,"given":"Gu\u00f0mundur","family":"Thorgeirsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Unnur","family":"Thorsteinsdottir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8223-8957","authenticated-orcid":false,"given":"Vinicius","family":"Tragante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9084-7800","authenticated-orcid":false,"given":"David-Alexandre","family":"Tr\u00e9gou\u00ebt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas A.","family":"Treibel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Ullum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana M.","family":"Valdes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4934-7510","authenticated-orcid":false,"given":"Jessica","family":"van Setten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6634-1989","authenticated-orcid":false,"given":"Marion","family":"van Vugt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abirami","family":"Veluchamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2134-4227","authenticated-orcid":false,"given":"W. M. Monique","family":"Verschuren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9801-7297","authenticated-orcid":false,"given":"Eric","family":"Villard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"COVIDsortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdad","family":"Noursadeghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"DBDS Genomic Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ole B. V.","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Stefansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Unnur","family":"Thorsteinsdottir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Ullum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Estonian Biobank Research Team","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"HERMES Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Folkert W.","family":"Asselbergs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"De Marvao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Pierre","family":"Dube","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick T.","family":"Ellinor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Garnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chim C.","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew P.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin N. A.","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilesh J.","family":"Samani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svati H.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akshay","family":"Shekhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Gustav","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sundarajan","family":"Srinivasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gu\u00f0mundur","family":"Thorgeirsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramachandran S.","family":"Vasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"van Setten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"van Vugt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abirami","family":"Veluchamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. M. Monique","family":"Verschuuren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Villard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quinn","family":"Wells","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Folkert W.","family":"Asselbergs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9630-7204","authenticated-orcid":false,"given":"Thomas P.","family":"Cappola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8442-4393","authenticated-orcid":false,"given":"Marie-Pierre","family":"Dube","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2067-0533","authenticated-orcid":false,"given":"Patrick T.","family":"Ellinor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8365-0081","authenticated-orcid":false,"given":"Aroon D.","family":"Hingorani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chim C.","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilesh J.","family":"Samani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svati H.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6285-9935","authenticated-orcid":false,"given":"J. Gustav","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7357-5970","authenticated-orcid":false,"given":"Ramachandran S.","family":"Vasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Declan P.","family":"O\u2019Regan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9517-6636","authenticated-orcid":false,"given":"Hilma","family":"Holm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9553-5029","authenticated-orcid":false,"given":"Michela","family":"Noseda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quinn","family":"Wells","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6110-5880","authenticated-orcid":false,"given":"James S.","family":"Ware","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9077-4741","authenticated-orcid":false,"given":"R. Thomas","family":"Lumbers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,21]]},"reference":[{"key":"1952_CR1","doi-asserted-by":"publisher","first-page":"1850","DOI":"10.1093\/eurheartj\/ehv727","volume":"37","author":"YM Pinto","year":"2016","unstructured":"Pinto, Y. M. et al. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur. Heart J. 37, 1850\u20131858 (2016).","journal-title":"Eur. Heart J."},{"key":"1952_CR2","unstructured":"Arbelo, E. et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur. Heart J. 44, 3503\u20133626 (2023)."},{"key":"1952_CR3","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1002\/ejhf.1461","volume":"21","author":"PM Seferovi\u0107","year":"2019","unstructured":"Seferovi\u0107, P. M. et al. Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology. Eur. J. Heart Fail. 21, 553\u2013576 (2019).","journal-title":"Eur. J. Heart Fail."},{"key":"1952_CR4","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-15823-7","volume":"11","author":"JP Pirruccello","year":"2020","unstructured":"Pirruccello, J. P. et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat. Commun. 11, 2254 (2020).","journal-title":"Nat. Commun."},{"key":"1952_CR5","doi-asserted-by":"publisher","first-page":"5531","DOI":"10.1002\/ehf2.13517","volume":"8","author":"RT Lumbers","year":"2021","unstructured":"Lumbers, R. T. et al. The genomics of heart failure: design and rationale of the HERMES consortium. ESC Heart Fail. 8, 5531\u20135541 (2021).","journal-title":"ESC Heart Fail."},{"key":"1952_CR6","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","volume":"10","author":"RE Hershberger","year":"2013","unstructured":"Hershberger, R. E., Hedges, D. J. & Morales, A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat. Rev. Cardiol. 10, 531\u2013547 (2013).","journal-title":"Nat. Rev. Cardiol."},{"key":"1952_CR7","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/s41588-018-0279-5","volume":"51","author":"D Speed","year":"2019","unstructured":"Speed, D. & Balding, D. J. SumHer better estimates the SNP heritability of complex traits from summary statistics. Nat. Genet. 51, 277\u2013284 (2019).","journal-title":"Nat. Genet."},{"key":"1952_CR8","doi-asserted-by":"crossref","unstructured":"Tadros, R. et al. Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy. Preprint at medRxiv www.medrxiv.org\/content\/10.1101\/2023.01.28.23285147 (2023).","DOI":"10.1093\/eurheartj\/ehad655.3197"},{"key":"1952_CR9","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1038\/s41588-020-00762-2","volume":"53","author":"R Tadros","year":"2021","unstructured":"Tadros, R. et al. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nat. Genet. 53, 128\u2013134 (2021).","journal-title":"Nat. Genet."},{"key":"1952_CR10","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/s41588-017-0009-4","volume":"50","author":"P Turley","year":"2018","unstructured":"Turley, P. et al. Multi-trait analysis of genome-wide association summary statistics using MTAG. Nat. Genet. 50, 229\u2013237 (2018).","journal-title":"Nat. Genet."},{"key":"1952_CR11","unstructured":"Zheng, S. L. et al. Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings. Preprint at medRxiv www.medrxiv.org\/content\/10.1101\/2023.03.14.23286621 (2023)."},{"key":"1952_CR12","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1161\/CIRCGENETICS.113.000259","volume":"7","author":"Y Tao","year":"2014","unstructured":"Tao, Y. et al. Pitx2, an atrial fibrillation predisposition gene, directly regulates ion transport and intercalated disc genes. Circ. Cardiovasc. Genet. 7, 23\u201332 (2014).","journal-title":"Circ. Cardiovasc. Genet."},{"key":"1952_CR13","doi-asserted-by":"publisher","first-page":"849","DOI":"10.3233\/JAD-161093","volume":"56","author":"AH Betrie","year":"2017","unstructured":"Betrie, A. H. et al. Evidence of a cardiovascular function for microtubule-associated protein tau. J. Alzheimers Dis. 56, 849\u2013860 (2017).","journal-title":"J. Alzheimers Dis."},{"key":"1952_CR14","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1007\/s00018-012-1131-1","volume":"70","author":"J England","year":"2013","unstructured":"England, J. & Loughna, S. Heavy and light roles: myosin in the morphogenesis of the heart. Cell. Mol. Life Sci. 70, 1221\u20131239 (2013).","journal-title":"Cell. Mol. Life Sci."},{"key":"1952_CR15","doi-asserted-by":"publisher","first-page":"1437","DOI":"10.1111\/jvim.12163","volume":"27","author":"KM Meurs","year":"2013","unstructured":"Meurs, K. M. et al. Association of dilated cardiomyopathy with the striatin mutation genotype in boxer dogs. J. Vet. Intern. Med. 27, 1437\u20131440 (2013).","journal-title":"J. Vet. Intern. Med."},{"key":"1952_CR16","doi-asserted-by":"publisher","first-page":"e31141","DOI":"10.1371\/journal.pone.0031141","volume":"7","author":"JC Dawson","year":"2012","unstructured":"Dawson, J. C., Bruche, S., Spence, H. J., Braga, V. M. & Machesky, L. M. Mtss1 promotes cell-cell junction assembly and stability through the small GTPase Rac1. PLoS ONE 7, e31141 (2012).","journal-title":"PLoS ONE"},{"key":"1952_CR17","doi-asserted-by":"publisher","first-page":"975","DOI":"10.3389\/fphys.2020.00975","volume":"11","author":"X Huang","year":"2020","unstructured":"Huang, X., Qu, R., Ouyang, J., Zhong, S. & Dai, J. An overview of the cytoskeleton-associated role of PDLIM5. Front. Physiol. 11, 975 (2020).","journal-title":"Front. Physiol."},{"key":"1952_CR18","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1161\/CIRCRESAHA.110.218735","volume":"107","author":"H Cheng","year":"2010","unstructured":"Cheng, H. et al. Loss of enigma homolog protein results in dilated cardiomyopathy. Circ. Res. 107, 348\u2013356 (2010).","journal-title":"Circ. Res."},{"key":"1952_CR19","doi-asserted-by":"publisher","first-page":"1704","DOI":"10.1002\/jcsm.12767","volume":"12","author":"W Luo","year":"2021","unstructured":"Luo, W. et al. TMEM182 interacts with integrin beta 1 and regulates myoblast differentiation and muscle regeneration. J. Cachexia Sarcopenia Muscle 12, 1704\u20131723 (2021).","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"1952_CR20","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.bbadis.2012.11.007","volume":"1832","author":"AV Villar","year":"2013","unstructured":"Villar, A. V. et al. BAMBI (BMP and activin membrane-bound inhibitor) protects the murine heart from pressure-overload biomechanical stress by restraining TGF-\u03b2 signaling. Biochim. Biophys. Acta 1832, 323\u2013335 (2013).","journal-title":"Biochim. Biophys. Acta"},{"key":"1952_CR21","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.118.010013","volume":"7","author":"B Bhandary","year":"2018","unstructured":"Bhandary, B. et al. Cardiac fibrosis in proteotoxic cardiac disease is dependent upon myofibroblast TGF\u2010\u03b2 signaling. J. Am. Heart Assoc. 7, e010013 (2018).","journal-title":"J. Am. Heart Assoc."},{"key":"1952_CR22","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1038\/s42003-021-02391-9","volume":"4","author":"N Al-Yacoub","year":"2021","unstructured":"Al-Yacoub, N. et al. Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosis. Commun. Biol. 4, 884 (2021).","journal-title":"Commun. Biol."},{"key":"1952_CR23","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1161\/CIRCRESAHA.115.306532","volume":"118","author":"H Shimokawa","year":"2016","unstructured":"Shimokawa, H., Sunamura, S. & Satoh, K. RhoA\/Rho-kinase in the cardiovascular system. Circ. Res. 118, 352\u2013366 (2016).","journal-title":"Circ. Res."},{"key":"1952_CR24","doi-asserted-by":"publisher","first-page":"9","DOI":"10.12688\/wellcomeopenres.17505.2","volume":"7","author":"KA McGurk","year":"2022","unstructured":"McGurk, K. A., Kasapi, M. & Ware, J. S. Effect of taurine administration on symptoms, severity, or clinical outcome of dilated cardiomyopathy and heart failure in humans: a systematic review. Wellcome Open Res. 7, 9 (2022).","journal-title":"Wellcome Open Res."},{"key":"1952_CR25","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1161\/CIRCRESAHA.117.310959","volume":"121","author":"CC Veerman","year":"2017","unstructured":"Veerman, C. C. et al. The Brugada syndrome susceptibility gene HEY2 modulates cardiac transmural ion channel patterning and electrical heterogeneity. Circ. Res. 121, 537\u2013548 (2017).","journal-title":"Circ. Res."},{"key":"1952_CR26","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1016\/j.ajhg.2019.04.014","volume":"104","author":"T Niihori","year":"2019","unstructured":"Niihori, T. et al. Germline-activating RRAS2 mutations cause Noonan syndrome. Am. J. Hum. Genet. 104, 1233\u20131240 (2019).","journal-title":"Am. J. Hum. Genet."},{"key":"1952_CR27","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1016\/j.ajhg.2019.04.013","volume":"104","author":"Y Capri","year":"2019","unstructured":"Capri, Y. et al. Activating mutations of RRAS2 are a rare cause of Noonan syndrome. Am. J. Hum. Genet. 104, 1223\u20131232 (2019).","journal-title":"Am. J. Hum. Genet."},{"key":"1952_CR28","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.74970","volume":"11","author":"NJ Connally","year":"2022","unstructured":"Connally, N. J. et al. The missing link between genetic association and regulatory function. eLife 11, e74970 (2022).","journal-title":"eLife"},{"key":"1952_CR29","doi-asserted-by":"crossref","unstructured":"Josephs, K. S. et al. Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. Genome Med. 15, 86 (2023).","DOI":"10.1186\/s13073-023-01246-8"},{"key":"1952_CR30","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1161\/CIRCULATIONAHA.120.053033","volume":"144","author":"E Jordan","year":"2021","unstructured":"Jordan, E. et al. Evidence-based assessment of genes in dilated cardiomyopathy. Circulation 144, 7\u201319 (2021).","journal-title":"Circulation"},{"key":"1952_CR31","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1093\/cvr\/cvac039","volume":"119","author":"L Yuan","year":"2023","unstructured":"Yuan, L. et al. RNF207 exacerbates pathological cardiac hypertrophy via post-translational modification of TAB1. Cardiovasc. Res. 119, 183\u2013194 (2023).","journal-title":"Cardiovasc. Res."},{"key":"1952_CR32","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-023-01221-3","volume":"15","author":"JE Niskanen","year":"2023","unstructured":"Niskanen, J. E. et al. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human. Genome Med. 15, 73 (2023).","journal-title":"Genome Med."},{"key":"1952_CR33","doi-asserted-by":"publisher","first-page":"e123855","DOI":"10.1172\/jci.insight.123855","volume":"4","author":"MS Parvatiyar","year":"2019","unstructured":"Parvatiyar, M. S. et al. Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy. JCI Insight 4, e123855 (2019).","journal-title":"JCI Insight"},{"key":"1952_CR34","doi-asserted-by":"publisher","first-page":"e002481","DOI":"10.1161\/JAHA.115.002481","volume":"4","author":"MS Parvatiyar","year":"2015","unstructured":"Parvatiyar, M. S. et al. Sarcospan regulates cardiac isoproterenol response and prevents Duchenne muscular dystrophy-associated cardiomyopathy. J. Am. Heart Assoc. 4, e002481 (2015).","journal-title":"J. Am. Heart Assoc."},{"key":"1952_CR35","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.1038\/s41588-022-01187-9","volume":"54","author":"KA Jagadeesh","year":"2022","unstructured":"Jagadeesh, K. A. et al. Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics. Nat. Genet. 54, 1479\u20131492 (2022).","journal-title":"Nat. Genet."},{"key":"1952_CR36","doi-asserted-by":"publisher","first-page":"eabo1984","DOI":"10.1126\/science.abo1984","volume":"377","author":"D Reichart","year":"2022","unstructured":"Reichart, D. et al. Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies. Science 377, eabo1984 (2022).","journal-title":"Science"},{"key":"1952_CR37","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-21246-9","volume":"12","author":"S Jin","year":"2021","unstructured":"Jin, S. et al. Inference and analysis of cell-cell communication using CellChat. Nat. Commun. 12, 1088 (2021).","journal-title":"Nat. Commun."},{"key":"1952_CR38","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1038\/s44161-022-00019-7","volume":"1","author":"L Nicin","year":"2022","unstructured":"Nicin, L. et al. A human cell atlas of the pressure-induced hypertrophic heart. Nat. Cardiovasc. Res. 1, 174\u2013185 (2022).","journal-title":"Nat. Cardiovasc. Res."},{"key":"1952_CR39","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1161\/CIRCULATIONAHA.121.058143","volume":"146","author":"RA Shah","year":"2022","unstructured":"Shah, R. A. et al. Frequency, penetrance, and variable expressivity of dilated cardiomyopathy-associated putative pathogenic gene variants in UK Biobank participants. Circulation 146, 110\u2013124 (2022).","journal-title":"Circulation"},{"key":"1952_CR40","doi-asserted-by":"publisher","first-page":"2000","DOI":"10.1093\/eurheartj\/ehab030","volume":"42","author":"S Garnier","year":"2021","unstructured":"Garnier, S. et al. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23. Eur. Heart J. 42, 2000\u20132011 (2021).","journal-title":"Eur. Heart J."},{"key":"1952_CR41","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1038\/s41588-019-0464-1","volume":"51","author":"S Gazal","year":"2019","unstructured":"Gazal, S., Marquez-Luna, C., Finucane, H. K. & Price, A. L. Reconciling S-LDSC and LDAK functional enrichment estimates. Nat. Genet. 51, 1202\u20131204 (2019).","journal-title":"Nat. Genet."},{"key":"1952_CR42","doi-asserted-by":"publisher","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","volume":"26","author":"CJ Willer","year":"2010","unstructured":"Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190\u20132191 (2010).","journal-title":"Bioinformatics"},{"key":"1952_CR43","doi-asserted-by":"publisher","first-page":"1236","DOI":"10.1038\/ng.3406","volume":"47","author":"B Bulik-Sullivan","year":"2015","unstructured":"Bulik-Sullivan, B. et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236\u20131241 (2015).","journal-title":"Nat. Genet."},{"key":"1952_CR44","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1038\/ng.3211","volume":"47","author":"BK Bulik-Sullivan","year":"2015","unstructured":"Bulik-Sullivan, B. K. et al. LD score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291\u2013295 (2015).","journal-title":"Nat. Genet."},{"key":"1952_CR45","doi-asserted-by":"publisher","first-page":"2009","DOI":"10.1016\/j.ajhg.2022.09.011","volume":"109","author":"SE Ojavee","year":"2022","unstructured":"Ojavee, S. E., Kutalik, Z. & Robinson, M. R. Liability-scale heritability estimation for biobank studies of low-prevalence disease. Am. J. Hum. Genet. 109, 2009\u20132017 (2022).","journal-title":"Am. J. Hum. Genet."},{"key":"1952_CR46","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.biopsych.2022.05.029","volume":"93","author":"AD Grotzinger","year":"2023","unstructured":"Grotzinger, A. D., Fuente, J., Priv\u00e9, F., Nivard, M. G. & Tucker-Drob, E. M. Pervasive downward bias in estimates of liability-scale heritability in genome-wide association study meta-analysis: a simple solution. Biol. Psychiatry 93, 29\u201336 (2023).","journal-title":"Biol. Psychiatry"},{"key":"1952_CR47","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/ng.2213","volume":"44","author":"J Yang","year":"2012","unstructured":"Yang, J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369\u2013375 (2012).","journal-title":"Nat. Genet."},{"key":"1952_CR48","doi-asserted-by":"publisher","first-page":"1355","DOI":"10.1038\/s41588-020-00735-5","volume":"52","author":"O Weissbrod","year":"2020","unstructured":"Weissbrod, O. et al. Functionally informed fine-mapping and polygenic localization of complex trait heritability. Nat. Genet. 52, 1355\u20131363 (2020).","journal-title":"Nat. Genet."},{"key":"1952_CR49","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1111\/rssb.12388","volume":"82","author":"G Wang","year":"2020","unstructured":"Wang, G., Sarkar, A. K., Carbonetto, P. & Stephens, M. A simple new approach to variable selection in regression, with application to genetic fine mapping. J. R. Stat. Soc. Series B Stat. Methodol. 82, 1273\u20131300 (2020).","journal-title":"J. R. Stat. Soc. Series B Stat. Methodol."},{"key":"1952_CR50","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","volume":"47","author":"P Rentzsch","year":"2019","unstructured":"Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J. & Kircher, M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 47, D886\u2013D894 (2019).","journal-title":"Nucleic Acids Res."},{"key":"1952_CR51","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).","journal-title":"Nucleic Acids Res."},{"key":"1952_CR52","doi-asserted-by":"publisher","first-page":"D1311","DOI":"10.1093\/nar\/gkaa840","volume":"49","author":"M Ghoussaini","year":"2021","unstructured":"Ghoussaini, M. et al. Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. Nucleic Acids Res. 49, D1311\u2013D1320 (2021).","journal-title":"Nucleic Acids Res."},{"key":"1952_CR53","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1038\/s41588-023-01443-6","volume":"55","author":"EM Weeks","year":"2023","unstructured":"Weeks, E. M. et al. Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases. Nat. Genet. 55, 1267\u20131276 (2023).","journal-title":"Nat. Genet."},{"key":"1952_CR54","doi-asserted-by":"publisher","first-page":"D1353","DOI":"10.1093\/nar\/gkac1046","volume":"51","author":"D Ochoa","year":"2022","unstructured":"Ochoa, D. et al. The next-generation Open Targets Platform: reimagined, redesigned, rebuilt. Nucleic Acids Res. 51, D1353\u2013D1359 (2022).","journal-title":"Nucleic Acids Res."},{"key":"1952_CR55","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-03621-1","volume":"9","author":"AN Barbeira","year":"2018","unstructured":"Barbeira, A. N. et al. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nat. Commun. 9, 1825 (2018).","journal-title":"Nat. Commun."},{"key":"1952_CR56","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":"1952_CR57","doi-asserted-by":"publisher","first-page":"1664","DOI":"10.1038\/s41588-019-0538-0","volume":"51","author":"CP Fulco","year":"2019","unstructured":"Fulco, C. P. et al. Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations. Nat. Genet. 51, 1664\u20131669 (2019).","journal-title":"Nat. Genet."},{"key":"1952_CR58","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1038\/nature11247","volume":"489","author":"EP Consortium","year":"2012","unstructured":"Consortium, E. P. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57 (2012).","journal-title":"Nature"},{"key":"1952_CR59","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-02317-2","volume":"9","author":"Z Zhu","year":"2018","unstructured":"Zhu, Z. et al. Causal associations between risk factors and common diseases inferred from GWAS summary data. Nat. Commun. 9, 224 (2018).","journal-title":"Nat. Commun."},{"key":"1952_CR60","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1038\/s41588-022-01284-9","volume":"55","author":"K Miyazawa","year":"2023","unstructured":"Miyazawa, K. et al. Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction. Nat. Genet. 55, 187\u2013197 (2023).","journal-title":"Nat. Genet."},{"key":"1952_CR61","doi-asserted-by":"publisher","first-page":"1412","DOI":"10.1038\/s41588-018-0205-x","volume":"50","author":"E Evangelou","year":"2018","unstructured":"Evangelou, E. et al. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nat. Genet. 50, 1412\u20131425 (2018).","journal-title":"Nat. Genet."},{"key":"1952_CR62","doi-asserted-by":"publisher","first-page":"1803","DOI":"10.1038\/s41588-022-01233-6","volume":"54","author":"KG Aragam","year":"2022","unstructured":"Aragam, K. G. et al. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat. Genet. 54, 1803\u20131815 (2022).","journal-title":"Nat. Genet."},{"key":"1952_CR63","doi-asserted-by":"publisher","first-page":"e254","DOI":"10.1161\/CIR.0000000000000950","volume":"143","author":"SS Virani","year":"2021","unstructured":"Virani, S. S. et al. Heart disease and stroke statistics\u20132021 update: a report from the American Heart Association. Circulation 143, e254\u2013e743 (2021).","journal-title":"Circulation"},{"key":"1952_CR64","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":"1952_CR65","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1038\/s41588-018-0081-4","volume":"50","author":"HK Finucane","year":"2018","unstructured":"Finucane, H. K. et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat. Genet. 50, 621\u2013629 (2018).","journal-title":"Nat. Genet."},{"key":"1952_CR66","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1038\/nature09906","volume":"473","author":"J Ernst","year":"2011","unstructured":"Ernst, J. et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 473, 43\u201349 (2011).","journal-title":"Nature"},{"key":"1952_CR67","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1038\/s41586-021-03446-x","volume":"593","author":"J Nasser","year":"2021","unstructured":"Nasser, J. et al. Genome-wide enhancer maps link risk variants to disease genes. Nature 593, 238\u2013243 (2021).","journal-title":"Nature"},{"key":"1952_CR68","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1038\/ng.3404","volume":"47","author":"HK Finucane","year":"2015","unstructured":"Finucane, H. K. et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 1228\u20131235 (2015).","journal-title":"Nat. Genet."},{"key":"1952_CR69","doi-asserted-by":"publisher","first-page":"1421","DOI":"10.1038\/ng.3954","volume":"49","author":"S Gazal","year":"2017","unstructured":"Gazal, S. et al. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat. Genet. 49, 1421\u20131427 (2017).","journal-title":"Nat. Genet."},{"key":"1952_CR70","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","volume":"26","author":"MD Robinson","year":"2010","unstructured":"Robinson, M. D., McCarthy, D. J. & Smyth, G. K. edgeR: a Bioconductor package for differential expression analysis of digital gene expression data. Bioinformatics 26, 139\u2013140 (2010).","journal-title":"Bioinformatics"},{"key":"1952_CR71","doi-asserted-by":"publisher","first-page":"W191","DOI":"10.1093\/nar\/gkz369","volume":"47","author":"U Raudvere","year":"2019","unstructured":"Raudvere, U. et al. g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update). Nucleic Acids Res. 47, W191\u2013W198 (2019).","journal-title":"Nucleic Acids Res."},{"key":"1952_CR72","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-09718-5","volume":"10","author":"T Ge","year":"2019","unstructured":"Ge, T., Chen, C. Y., Ni, Y., Feng, Y. A. & Smoller, J. W. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat. Commun. 10, 1776 (2019).","journal-title":"Nat. Commun."},{"key":"1952_CR73","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":"1952_CR74","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1038\/nrg3457","volume":"14","author":"NR Wray","year":"2013","unstructured":"Wray, N. R. et al. Pitfalls of predicting complex traits from SNPs. Nat. Rev. Genet. 14, 507\u2013515 (2013).","journal-title":"Nat. Rev. Genet."},{"key":"1952_CR75","doi-asserted-by":"publisher","first-page":"e0175508","DOI":"10.1371\/journal.pone.0175508","volume":"12","author":"W-Q Wei","year":"2017","unstructured":"Wei, W.-Q. et al. Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PLoS ONE 12, e0175508 (2017).","journal-title":"PLoS ONE"},{"key":"1952_CR76","doi-asserted-by":"publisher","first-page":"2375","DOI":"10.1093\/bioinformatics\/btu197","volume":"30","author":"RJ Carroll","year":"2014","unstructured":"Carroll, R. J., Bastarache, L. & Denny, J. C. R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment. Bioinformatics 30, 2375\u20132376 (2014).","journal-title":"Bioinformatics"},{"key":"1952_CR77","doi-asserted-by":"publisher","unstructured":"Henry, A. ihi-comp-med\/hermes2-gwas: manuscript release. Zenodo https:\/\/doi.org\/10.5281\/zenodo.11204854 (2024).","DOI":"10.5281\/zenodo.11204854"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01952-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01952-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01952-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T23:39:11Z","timestamp":1733873951000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41588-024-01952-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,21]]},"references-count":77,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["1952"],"URL":"https:\/\/doi.org\/10.1038\/s41588-024-01952-y","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.09.28.23295408","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,21]]},"assertion":[{"value":"13 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"S.L.Z. has acted as a consultant for Health Lumen. A.H. and R.T.L. have received funding from Pfizer Inc. R.T.L. has performed paid consultancy for Health Lumen and Fitfile Ltd. J.S.W. has acted as a consultant for MyoKardia, Pfizer, Foresite Labs and Health Lumen and received institutional support from Bristol Myers Squibb and Pfizer Inc. P.C. has received personal fees for consultancies, outside the present work, for Amicus, Pfizer Inc., Owkin and Bristol Myers Squibb. M.-P.D. declares holding equity in Dalcor Pharmaceuticals, unrelated to this work. The authors who are affiliated with deCODE genetics\/Amgen Inc. and Regeneron Pharmaceuticals declare competing financial interests as employees. The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}