{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:49:00Z","timestamp":1753876140580,"version":"3.41.2"},"reference-count":25,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T00:00:00Z","timestamp":1715817600000},"content-version":"vor","delay-in-days":136,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["ACIF\/2021\/117 CIPROM\/2021\/023"],"award-info":[{"award-number":["ACIF\/2021\/117 CIPROM\/2021\/023"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011033","name":"Agencia Estatal de Investigaci\u00f3n","doi-asserted-by":"publisher","award":["PDC2021-121243-I00,MICIN\/AEI\/10.13039\/501 10001103 PID2021-123824OB-I00"],"award-info":[{"award-number":["PDC2021-121243-I00,MICIN\/AEI\/10.13039\/501 10001103 PID2021-123824OB-I00"]}],"id":[{"id":"10.13039\/501100011033","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["ACIF\/2021\/117 CIPROM\/2021\/023"],"award-info":[{"award-number":["ACIF\/2021\/117 CIPROM\/2021\/023"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011033","name":"Agencia Estatal de Investigaci\u00f3n","doi-asserted-by":"publisher","award":["PDC2021-121243-I00,MICIN\/AEI\/10.13039\/501 10001103 PID2021-123824OB-I00"],"award-info":[{"award-number":["PDC2021-121243-I00,MICIN\/AEI\/10.13039\/501 10001103 PID2021-123824OB-I00"]}],"id":[{"id":"10.13039\/501100011033","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutational hotspots are DNA regions with an abnormally high frequency of genetic variants. Identifying whether a variant is located in a mutational hotspot is critical for determining the variant\u2019s role in disorder predisposition, development, and treatment response. Despite their significance, current databases on mutational hotspots are limited to the oncology domain. However, identifying mutational hotspots is critical for any disorder in which genetics plays a role. This is true for the world\u2019s leading cause of death: cardiac disorders. In this work, we present CardioHotspots, a literature-based database of manually curated hotspots for cardiac diseases. This is the only database we know of that provides high-quality and easily accessible information about hotspots associated with cardiac disorders. CardioHotspots is publicly accessible via a web-based platform ( https:\/\/genomics-hub.pros.dsic.upv.es:3099\/).<\/jats:p>\n               <jats:p>Database URL: https:\/\/genomics-hub.pros.dsic.upv.es:3099\/.<\/jats:p>","DOI":"10.1093\/database\/baae034","type":"journal-article","created":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T06:39:35Z","timestamp":1715841575000},"source":"Crossref","is-referenced-by-count":0,"title":["CardioHotspots: a database of mutational hotspots for cardiac disorders"],"prefix":"10.1093","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5910-4363","authenticated-orcid":false,"given":"Alberto","family":"Garc\u00eda S","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8614-0914","authenticated-orcid":false,"given":"Mireia","family":"Costa","sequence":"additional","affiliation":[{"name":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S\/N, Valencia 46022,","place":["Spain"]}]},{"given":"Alba","family":"Garc\u00eda-Zarzoso","sequence":"additional","affiliation":[{"name":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S\/N, Valencia 46022,","place":["Spain"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1320-8471","authenticated-orcid":false,"given":"Oscar","family":"Pastor","sequence":"additional","affiliation":[{"name":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S\/N, Valencia 46022,","place":["Spain"]}]}],"member":"286","published-online":{"date-parts":[[2024,5,15]]},"reference":[{"key":"2025021715030133200_R1","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1126\/science.aax4588","article-title":"Translational genomics and precision medicine: moving from the lab to the clinic","volume":"365","author":"Zeggini","year":"2019","journal-title":"Science"},{"key":"2025021715030133200_R2","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. 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