{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T08:07:06Z","timestamp":1772784426711,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,9,20]],"date-time":"2020-09-20T00:00:00Z","timestamp":1600560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"publisher","award":["Z191100006619034"],"award-info":[{"award-number":["Z191100006619034"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without a genetic diagnosis after routine genetic testing, dystrophin protein and mRNA analysis, and short\u2010 and long\u2010read whole <jats:italic>DMD<\/jats:italic> gene sequencing. We finally identified a novel complex SV in <jats:italic>DMD<\/jats:italic> via long\u2010read whole\u2010genome sequencing. The variant consists of a large\u2010scale (~1Mb) inversion\/deletion\u2010insertion rearrangement mediated by LINE\u20101s. Our study shows that long\u2010read whole\u2010genome sequencing can serve as a clinical diagnostic tool for genetically unsolved dystrophinopathies.<\/jats:p>","DOI":"10.1002\/acn3.51201","type":"journal-article","created":{"date-parts":[[2020,9,20]],"date-time":"2020-09-20T11:16:10Z","timestamp":1600600570000},"page":"2041-2046","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Long\u2010read whole\u2010genome sequencing for the genetic diagnosis of dystrophinopathies"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-6026","authenticated-orcid":false,"given":"Zhiying","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University First Hospital Beijing 100034 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengyue","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking 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