{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:26:32Z","timestamp":1791354392117,"version":"4.3.1"},"reference-count":57,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100001755","name":"Mesothelioma Applied Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001755","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["CA175691"],"award-info":[{"award-number":["CA175691"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["CA-06927"],"award-info":[{"award-number":["CA-06927"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There is irrefutable evidence that germline BRCA1-associated protein 1 gene (BAP1) mutations contribute to malignant mesothelioma (MM) susceptibility. However, BAP1 mutations are not found in all cases with evidence of familial MM or in other high-risk cancer families affected by various cancers, including MM. The goal of this study was to use whole genome sequencing (WGS) to determine the frequency and types of germline gene variants occurring in 12 MM patients who were selected from a series of 141 asbestos-exposed MM patients with a family history of cancer but without a germline BAP1 mutation. WGS was also performed on two MM cases, a proband and sibling, from a previously reported family with multiple cases of MM without the inheritance of a predisposing BAP1 mutation. Altogether, germline DNA sequencing variants were identified in 21 cancer-related genes in 10 of the 13 probands. Germline indel, splice site and missense mutations and two large deletions were identified. Among the 13 MM index cases, 6 (46%) exhibited one or more predicted pathogenic mutations. Affected genes encode proteins involved in DNA repair (ATM, ATR, BRCA2, BRIP1, CHEK2, MLH3, MUTYH, POLE, POLE4, POLQ and XRCC1), chromatin modification (ARID1B, DNMT3A, JARID2 and SETD1B) or other cellular pathways: leucine-rich repeat kinase 2 gene (LRRK2) (two cases) and MSH4. Notably, somatic truncating mutation or deletions of LRRK2 were occasionally found in MMs in The Cancer Genome Atlas, and the expression of LRRK2 was undetectable or downregulated in a majority of primary MMs and MM cell lines we examined, implying that loss of LRRK2 expression is a newly recognized tumor suppressor alteration in MM.<\/jats:p>","DOI":"10.1093\/hmg\/ddab138","type":"journal-article","created":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T11:07:51Z","timestamp":1620990471000},"page":"1750-1761","source":"Crossref","is-referenced-by-count":23,"title":["Novel<i>LRRK2<\/i>mutations and other rare, non-<i>BAP1<\/i>-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors"],"prefix":"10.1093","volume":"30","author":[{"given":"Mitchell","family":"Cheung","sequence":"first","affiliation":[{"name":"Cancer Epigenetics and Signaling Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwaraj","family":"Kadariya","sequence":"additional","affiliation":[{"name":"Cancer Epigenetics and Signaling Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Sementino","sequence":"additional","affiliation":[{"name":"Cancer Epigenetics and Signaling Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Cozzi","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences, Oncology and Pathology, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Ascoli","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences, Oncology and Pathology, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A","family":"Ohar","sequence":"additional","affiliation":[{"name":"Section of Pulmonary, Critical Care, Allergy and Immunologic Diseases, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, NC 27157-1054, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph R","family":"Testa","sequence":"additional","affiliation":[{"name":"Cancer Epigenetics and Signaling Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,5,18]]},"reference":[{"key":"2021090214222475000_ref1","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1053\/sonc.2002.30237","article-title":"The epidemiology of mesothelioma","volume":"29","author":"Britton","year":"2002","journal-title":"Semin. Oncol."},{"key":"2021090214222475000_ref2","doi-asserted-by":"crossref","first-page":"214","DOI":"10.15585\/mmwr.mm6608a3","article-title":"Malignant mesothelioma mortality\u2014United States, 1999-2015","volume":"66","author":"Mazurek","year":"2017","journal-title":"MMWR Morb. Mortal. Wkly Rep."},{"key":"2021090214222475000_ref3","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1038\/ng.912","article-title":"Germline BAP1 mutations predispose to malignant mesothelioma","volume":"43","author":"Testa","year":"2011","journal-title":"Nat. Genet."},{"key":"2021090214222475000_ref4","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1126\/science.1194472","article-title":"Frequent mutation of BAP1 in metastasizing uveal melanomas","volume":"330","author":"Harbour","year":"2010","journal-title":"Science"},{"key":"2021090214222475000_ref5","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng.910","article-title":"Germline mutations in BAP1 predispose to melanocytic tumors","volume":"43","author":"Wiesner","year":"2011","journal-title":"Nat. Genet."},{"key":"2021090214222475000_ref6","doi-asserted-by":"crossref","first-page":"e337","DOI":"10.1200\/JCO.2011.41.2965","article-title":"Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations","volume":"30","author":"Wiesner","year":"2012","journal-title":"J. Clin. Oncol."},{"key":"2021090214222475000_ref7","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1136\/jmedgenet-2011-100156","article-title":"Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers","volume":"48","author":"Abdel-Rahman","year":"2011","journal-title":"J. Med. Genet."},{"key":"2021090214222475000_ref8","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1111\/pcmr.12006","article-title":"A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma and paraganglioma","volume":"25","author":"Wadt","year":"2012","journal-title":"Pigment Cell Melanoma Res."},{"key":"2021090214222475000_ref9","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/j.ajhg.2013.04.012","article-title":"Germline BAP1 mutations predispose to renal cell carcinomas","volume":"92","author":"Popova","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"2021090214222475000_ref10","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/cge.12472","article-title":"Germline BAP1 mutations predispose also to multiple basal cell carcinomas","volume":"88","author":"Fouchardiere","year":"2015","journal-title":"Clin. Genet."},{"key":"2021090214222475000_ref11","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/nrc3459","article-title":"BAP1 and cancer","volume":"13","author":"Carbone","year":"2013","journal-title":"Nat. Rev. Cancer"},{"key":"2021090214222475000_ref12","first-page":"1993","volume-title":"GeneReviews [Internet]","author":"Pilarski","year":"2016"},{"key":"2021090214222475000_ref13","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1093\/jnci\/djy171","article-title":"Comprehensive study of the clinical phenotype of germline BAP1 variant-carrying families worldwide","volume":"110","author":"Walpole","year":"2018","journal-title":"J. Natl. Cancer Inst."},{"key":"2021090214222475000_ref14","doi-asserted-by":"crossref","first-page":"2836","DOI":"10.1158\/0008-5472.CAN-15-3371","article-title":"Bap1 is a bona fide tumor suppressor: genetic evidence from mouse models carrying heterozygous germline Bap1 mutations","volume":"76","author":"Kadariya","year":"2016","journal-title":"Cancer Res."},{"key":"2021090214222475000_ref15","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1038\/sj.onc.1201861","article-title":"BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression","volume":"16","author":"Jensen","year":"1998","journal-title":"Oncogene"},{"key":"2021090214222475000_ref16","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.canlet.2015.09.011","article-title":"Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene-environment interaction","volume":"369","author":"Cheung","year":"2015","journal-title":"Cancer Lett."},{"key":"2021090214222475000_ref17","doi-asserted-by":"crossref","first-page":"113673","DOI":"10.18632\/oncotarget.22817","article-title":"Large-scale copy number analysis reveals variations in genes not previously associated with malignant pleural mesothelioma","volume":"8","author":"Hylebos","year":"2017","journal-title":"Oncotarget"},{"key":"2021090214222475000_ref18","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1158\/0008-5472.CAN-15-0295","article-title":"Germline BAP1 mutational landscape of asbestos-exposed malignant mesothelioma patients with family history of cancer","volume":"76","author":"Ohar","year":"2016","journal-title":"Cancer Res."},{"key":"2021090214222475000_ref19","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.canlet.2017.06.028","article-title":"Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma","volume":"405","author":"Betti","year":"2017","journal-title":"Cancer Lett."},{"key":"2021090214222475000_ref20","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.cancergen.2016.07.002","article-title":"Mesothelioma families without inheritance of a BAP1 predisposing mutation","volume":"209","author":"Ascoli","year":"2016","journal-title":"Cancer Genet."},{"key":"2021090214222475000_ref21","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.cell.2011.02.013","article-title":"Hallmarks of cancer: the next generation","volume":"144","author":"Hanahan","year":"2011","journal-title":"Cell"},{"key":"2021090214222475000_ref22","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.cancergen.2015.07.004","article-title":"An asbestos-exposed family with multiple cases of pleural malignant mesothelioma without inheritance of a predisposing BAP1 mutation","volume":"208","author":"Cheung","year":"2015","journal-title":"Cancer Genet."},{"key":"2021090214222475000_ref23","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1158\/2159-8290.CD-18-0804","article-title":"Integrative molecular characterization of malignant pleural mesothelioma","volume":"8","author":"Hmeljak","year":"2018","journal-title":"Cancer Discov."},{"key":"2021090214222475000_ref24","first-page":"423","article-title":"Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?","volume":"16","author":"Angelousi","year":"2017","journal-title":"Hormones"},{"key":"2021090214222475000_ref25","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41525-019-0087-6","article-title":"High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer","volume":"4","author":"Bertelsen","year":"2019","journal-title":"NPJ Genom. Med."},{"key":"2021090214222475000_ref26","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0194098","article-title":"Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers","volume":"13","author":"Pritchard","year":"2018","journal-title":"PLoS One"},{"key":"2021090214222475000_ref27","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/gim.2015.75","article-title":"POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and\/or polyposis: review of reported cases and recommendations for genetic testing and surveillance","volume":"18","author":"Bellido","year":"2016","journal-title":"Genet. Med."},{"key":"2021090214222475000_ref28","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.mrfmmm.2011.01.001","article-title":"XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study","volume":"708","author":"Betti","year":"2011","journal-title":"Mutat. Res."},{"key":"2021090214222475000_ref29","doi-asserted-by":"crossref","first-page":"3485","DOI":"10.1200\/JCO.2018.79.0352","article-title":"A subset of mesotheliomas with improved survival occurring in carriers of BAP1 and other germline mutations","volume":"36","author":"Pastorino","year":"2018","journal-title":"J. Clin. Oncol."},{"key":"2021090214222475000_ref30","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/gcc.22670","article-title":"Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes","volume":"57","author":"Betti","year":"2018","journal-title":"Genes Chromosomes Cancer"},{"key":"2021090214222475000_ref31","doi-asserted-by":"crossref","first-page":"2863","DOI":"10.1200\/JCO.2018.78.5204","article-title":"Frequency of germline mutations in cancer susceptibility genes in malignant mesothelioma","volume":"36","author":"Panou","year":"2018","journal-title":"J. Clin. Oncol."},{"key":"2021090214222475000_ref32","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s10689-018-0095-1","article-title":"Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma","volume":"17","author":"Hylebos","year":"2018","journal-title":"Familial Cancer"},{"key":"2021090214222475000_ref33","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.canlet.2016.05.011","article-title":"CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma","volume":"378","author":"Betti","year":"2016","journal-title":"Cancer Lett."},{"key":"2021090214222475000_ref34","doi-asserted-by":"crossref","first-page":"9008","DOI":"10.1073\/pnas.1821510116","article-title":"Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy","volume":"116","author":"Hassan","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2021090214222475000_ref35","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10549-006-9320-y","article-title":"A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland","volume":"102","author":"Cybulski","year":"2007","journal-title":"Breast Cancer Res. Treat."},{"key":"2021090214222475000_ref36","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1002\/ijc.32385","article-title":"Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer","volume":"145","author":"Kleiblova","year":"2019","journal-title":"Int. J. Cancer"},{"key":"2021090214222475000_ref37","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1080\/0284186X.2018.1529428","article-title":"Identifying breast cancer susceptibility genes\u2014a review of the genetic background in familial breast cancer","volume":"58","author":"Wendt","year":"2019","journal-title":"Acta Oncol."},{"key":"2021090214222475000_ref38","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1158\/1055-9965.EPI-05-0793","article-title":"Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study","volume":"15","author":"Jenkins","year":"2006","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"2021090214222475000_ref39","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1053\/j.gastro.2009.04.047","article-title":"Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH","volume":"137","author":"Jones","year":"2009","journal-title":"Gastroenterology"},{"key":"2021090214222475000_ref40","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.molcel.2018.04.008","article-title":"Pol epsilon instability drives replication stress, abnormal development, and tumorigenesis","volume":"70","author":"Bellelli","year":"2018","journal-title":"Mol. Cell"},{"key":"2021090214222475000_ref41","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.gde.2020.02.017","article-title":"DNA polymerase theta (pol theta)\u2014an error-prone polymerase necessary for genome stability","volume":"60","author":"Brambati","year":"2020","journal-title":"Curr. Opin. Genet. Dev."},{"key":"2021090214222475000_ref42","doi-asserted-by":"crossref","first-page":"17210","DOI":"10.3390\/ijms131217210","article-title":"X-ray repair cross complementing protein 1 in base excision repair","volume":"13","author":"Hanssen-Bauer","year":"2012","journal-title":"Int. J. Mol. Sci."},{"key":"2021090214222475000_ref43","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1038\/nm.3947","article-title":"Loss of BAP1 function leads to EZH2-dependent transformation","volume":"21","author":"LaFave","year":"2015","journal-title":"Nat. Med."},{"key":"2021090214222475000_ref44","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.dnarep.2015.11.024","article-title":"Roles for mismatch repair family proteins in promoting meiotic crossing over","volume":"38","author":"Manhart","year":"2016","journal-title":"DNA Repair"},{"key":"2021090214222475000_ref45","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1476-4598-12-51","article-title":"MutS homologue hMSH4: interaction with eIF3f and a role in NHEJ-mediated DSB repair","volume":"12","author":"Chu","year":"2013","journal-title":"Mol. Cancer"},{"key":"2021090214222475000_ref46","doi-asserted-by":"crossref","first-page":"2374","DOI":"10.1016\/j.ajpath.2014.05.017","article-title":"TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors","volume":"184","author":"Kim","year":"2014","journal-title":"Am. J. Pathol."},{"key":"2021090214222475000_ref47","doi-asserted-by":"crossref","first-page":"49","DOI":"10.2350\/14-07-1531-MISC.1","article-title":"Rhabdoid tumor predisposition syndrome","volume":"18","author":"Sredni","year":"2015","journal-title":"Pediatr. Dev. Pathol."},{"key":"2021090214222475000_ref48","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/mgg3.412","article-title":"Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1","volume":"6","author":"Kehrer-Sawatzki","year":"2018","journal-title":"Mol. Gen. Genom. Med."},{"key":"2021090214222475000_ref49","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/jcp.22724","article-title":"Malignant mesothelioma: facts, myths, and hypotheses","volume":"227","author":"Carbone","year":"2012","journal-title":"J. Cell. Physiol."},{"key":"2021090214222475000_ref50","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1038\/onc.2015.243","article-title":"Minimal asbestos exposure in germline BAP1 heterozygous mice is associated with deregulated inflammatory response and increased risk of mesothelioma","volume":"35","author":"Napolitano","year":"2016","journal-title":"Oncogene"},{"key":"2021090214222475000_ref51","doi-asserted-by":"crossref","first-page":"4388","DOI":"10.1158\/0008-5472.CAN-14-1328","article-title":"Germline mutation of Bap1 accelerates development of asbestos-induced malignant mesothelioma","volume":"74","author":"Xu","year":"2014","journal-title":"Cancer Res."},{"key":"2021090214222475000_ref52","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1126\/science.aar5683","article-title":"LRRK2 kinase in Parkinson\u2019s disease","volume":"360","author":"Alessi","year":"2018","journal-title":"Science"},{"key":"2021090214222475000_ref53","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1001\/jamaneurol.2014.1973","article-title":"Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis","volume":"72","author":"Agalliu","year":"2015","journal-title":"JAMA Neurol."},{"key":"2021090214222475000_ref54","doi-asserted-by":"crossref","first-page":"4494","DOI":"10.1093\/hmg\/ddx337","article-title":"LRRK2 interacts with ATM and regulates Mdm2-p53 cell proliferation axis in response to genotoxic stress","volume":"26","author":"Chen","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"2021090214222475000_ref55","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s13041-015-0145-7","article-title":"Leucine-rich repeat kinase 2 (LRRK2) phosphorylates p53 and induces p21(WAF1\/CIP1) expression","volume":"8","author":"Ho","year":"2015","journal-title":"Mol. Brain"},{"key":"2021090214222475000_ref56","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1038\/s41598-021-81639-0","article-title":"Loss of Parkinson\u2019s susceptibility gene LRRK2 promotes carcinogen-induced lung tumorigenesis","volume":"11","author":"Lebovitz","year":"2021","journal-title":"Sci. Rep."},{"key":"2021090214222475000_ref57","doi-asserted-by":"crossref","DOI":"10.1093\/database\/bax028","article-title":"GeneHancer: genome-wide integration of enhancers and target genes in GeneCards","volume":"2017","author":"Fishilevich","year":"2017","journal-title":"Database"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddab138\/38890605\/ddab138.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/30\/18\/1750\/40077370\/ddab138.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/30\/18\/1750\/40077370\/ddab138.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,3]],"date-time":"2023-11-03T19:01:39Z","timestamp":1699038099000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/30\/18\/1750\/6277787"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,18]]},"references-count":57,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2021,5,18]]},"published-print":{"date-parts":[[2021,8,28]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddab138","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,9,15]]},"published":{"date-parts":[[2021,5,18]]}}}