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In Duchenne muscular dystrophy, variant classification and phenotypic severity of CNVs are currently assessed by familial segregation, prediction of the effect on the reading frame, and precedent data. Delineation of pathogenicity by familial segregation is limited by time and suitable family members, whereas analytical tools can rapidly delineate potential consequences of variants. We identified a duplication of uncertain significance encompassing a portion of the dystrophin gene (<jats:italic>DMD<\/jats:italic>) in an unaffected mother and her male fetus. Using long\u2010read whole genome sequencing and alignment of short reads, we rapidly defined the precise breakpoints of this variant in <jats:italic>DMD<\/jats:italic> and could provide timely counseling. The benign nature of the variant was substantiated, more slowly, by familial segregation to a healthy maternal uncle. We find long\u2010read whole genome sequencing of clinical utility in a prenatal setting for accurate and rapid characterization of structural variants, specifically a duplication involving <jats:italic>DMD<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62349","type":"journal-article","created":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T10:04:16Z","timestamp":1621591456000},"page":"2541-2545","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["An approach to rapid characterization of <scp><i>DMD<\/i><\/scp> copy number variants for prenatal risk assessment"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-6794","authenticated-orcid":false,"given":"Hui\u2010Lin","family":"Chin","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"},{"name":"Khoo Teck Puat\u2010National University Children's Medical Institute National University Hospital  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kieran","family":"O'Neill","sequence":"additional","affiliation":[{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristal","family":"Louie","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamilla","family":"Schlade\u2010Bartusiak","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Eydoux","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosemarie","family":"Rupps","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Farahani","sequence":"additional","affiliation":[{"name":"Preventum Personalized Healthcare  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3097-241X","authenticated-orcid":false,"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J. 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