{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T15:56:46Z","timestamp":1792425406530,"version":"4.5.0"},"reference-count":27,"publisher":"BMJ","issue":"8","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-168982"],"award-info":[{"award-number":["PJT-168982"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-185999"],"award-info":[{"award-number":["PJT-185999"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012285","name":"BC Children\u2019s Hospital","doi-asserted-by":"publisher","award":["IGAP award"],"award-info":[{"award-number":["IGAP award"]}],"id":[{"id":"10.13039\/100012285","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001804","name":"Canada Research Chairs","doi-asserted-by":"publisher","award":["Not Applicable"],"award-info":[{"award-number":["Not Applicable"]}],"id":[{"id":"10.13039\/501100001804","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005614","name":"BC Cancer Agency","doi-asserted-by":"publisher","award":["BC Cancer Agency Rising Stars Initiative"],"award-info":[{"award-number":["BC Cancer Agency Rising Stars Initiative"]}],"id":[{"id":"10.13039\/501100005614","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,5,7]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32. Understanding the underlying molecular mechanism is essential to understanding the recurrence risk and physical effects. Currently, diagnosis requires the detection of aberrant methylation and copy number loss via methylation-sensitive assays such as methylation-specific multiplex ligation-dependent probe amplification, and short tandem repeat analysis to detect matUPD and the presence of epimutation. Therefore, a one-step approach that can detect aberrant methylation and underlying genetic mechanisms would be of high clinical value. Here we use nanopore sequencing to delineate the molecular diagnosis of a case with Temple syndrome. We demonstrate the application of nanopore sequencing to detect aberrant methylation and underlying genetic mechanisms simultaneously in this case, thus providing a proof of concept for a one-step approach for molecular diagnosis of this disorder.<\/jats:p>","DOI":"10.1136\/jmg-2024-110262","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T05:10:15Z","timestamp":1748581815000},"page":"502-507","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Using long-read sequencing to detect and subtype a case with Temple syndrome"],"prefix":"10.1136","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3445-2377","authenticated-orcid":false,"given":"Sarah","family":"Dada","sequence":"first","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada"},{"name":"Bioinformatics Graduate Program, University of British 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Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelius F","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"},{"name":"Provincial Medical Genetics Program, BC Women\u2019s Hospital, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Stewart","sequence":"additional","affiliation":[{"name":"BC Children\u2019s Hospital, Vancouver, British Columbia, Canada"},{"name":"Division of Endocrinology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamilla","family":"Schlade-Bartusiak","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada"},{"name":"BC Children\u2019s Hospital Research Institute, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Strong","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danya","family":"Fox","sequence":"additional","affiliation":[{"name":"BC Children\u2019s Hospital, Vancouver, British Columbia, Canada"},{"name":"Division of Endocrinology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Gamu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"},{"name":"School of Kinesiology, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6552-402X","authenticated-orcid":false,"given":"William T","family":"Gibson","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"},{"name":"BC Children\u2019s Hospital, Vancouver, British Columbia, Canada"},{"name":"Provincial Medical Genetics Program, BC Women\u2019s Hospital, Vancouver, British Columbia, Canada"},{"name":"BC Children\u2019s Hospital Research Institute, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J M","family":"Jones","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada"},{"name":"Bioinformatics Graduate Program, University of British Columbia, 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