{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:39:11Z","timestamp":1792132751873,"version":"4.4.0"},"reference-count":48,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:00:00Z","timestamp":1695859200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cDr. Georg E. und Marianne Kosing-Stiftung\u201d","award":["NME-GPS"],"award-info":[{"award-number":["NME-GPS"]}]},{"name":"\u201cDr. Georg E. und Marianne Kosing-Stiftung\u201d","award":["37\/1049-1"],"award-info":[{"award-number":["37\/1049-1"]}]},{"name":"\u201cDr. Georg E. und Marianne Kosing-Stiftung\u201d","award":["286\/2020B01\u2014428994620"],"award-info":[{"award-number":["286\/2020B01\u2014428994620"]}]},{"name":"European Regional Development Fund","award":["NME-GPS"],"award-info":[{"award-number":["NME-GPS"]}]},{"name":"European Regional Development Fund","award":["37\/1049-1"],"award-info":[{"award-number":["37\/1049-1"]}]},{"name":"European Regional Development Fund","award":["286\/2020B01\u2014428994620"],"award-info":[{"award-number":["286\/2020B01\u2014428994620"]}]},{"name":"NGS Competence Center T\u00fcbingen","award":["NME-GPS"],"award-info":[{"award-number":["NME-GPS"]}]},{"name":"NGS Competence Center T\u00fcbingen","award":["37\/1049-1"],"award-info":[{"award-number":["37\/1049-1"]}]},{"name":"NGS Competence Center T\u00fcbingen","award":["286\/2020B01\u2014428994620"],"award-info":[{"award-number":["286\/2020B01\u2014428994620"]}]},{"name":"the Deutsche Forschungsgemeinschaft","award":["NME-GPS"],"award-info":[{"award-number":["NME-GPS"]}]},{"name":"the Deutsche Forschungsgemeinschaft","award":["37\/1049-1"],"award-info":[{"award-number":["37\/1049-1"]}]},{"name":"the Deutsche Forschungsgemeinschaft","award":["286\/2020B01\u2014428994620"],"award-info":[{"award-number":["286\/2020B01\u2014428994620"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, or point mutations in the dystrophin-encoding DMD gene. However, in a small subset of patients clinically diagnosed with DMD, the molecular cause is not identified with these routine methods. Evaluation of the 60 DMD patients in our center revealed three cases without a known genetic cause. DNA samples of these patients were analyzed using whole-exome sequencing (WES) and, if unconclusive, optical genome mapping (OGM). WES led to a diagnosis in two cases: one patient was found to carry a splice mutation in the DMD gene that had not been identified during previous Sanger sequencing. In the second patient, we detected two variants in the fukutin gene (FKTN) that were presumed to be disease-causing. In the third patient, WES was unremarkable, but OGM identified an inversion disrupting the DMD gene (~1.28 Mb) that was subsequently confirmed with long-read sequencing. These results highlight the importance of reanalyzing unsolved cases using WES and demonstrate that OGM is a useful method for identifying large structural variants in cases with unremarkable exome sequencing.<\/jats:p>","DOI":"10.3390\/ijms241914716","type":"journal-article","created":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T02:47:30Z","timestamp":1695955650000},"page":"14716","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene"],"prefix":"10.3390","volume":"24","author":[{"given":"Leoni S.","family":"Erbe","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Hoffjan","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany"},{"name":"Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00f6ren","family":"Jan\u00dfen","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, University Children\u2019s Hospital, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moritz","family":"Kneifel","sequence":"additional","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"Krause","sequence":"additional","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3858-9872","authenticated-orcid":false,"given":"Wanda M.","family":"Gerding","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"D\u00f6ring","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Katrin","family":"G\u00fcttsches","sequence":"additional","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2833-0928","authenticated-orcid":false,"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Buena Atienza","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University T\u00fcbingen, 72074 T\u00fcbingen, Germany"},{"name":"NGS Competence Center T\u00fcbingen, 72076 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9009-5458","authenticated-orcid":false,"given":"Caspar","family":"Gross","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University T\u00fcbingen, 72074 T\u00fcbingen, Germany"},{"name":"NGS Competence Center T\u00fcbingen, 72076 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"L\u00fccke","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany"},{"name":"Department of Neuropediatrics, University Children\u2019s Hospital, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6139-788X","authenticated-orcid":false,"given":"Hoa Huu Phuc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany"},{"name":"Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1782-4642","authenticated-orcid":false,"given":"Matthias","family":"Vorgerd","sequence":"additional","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"K\u00f6hler","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany"},{"name":"Department of Neuropediatrics, University Children\u2019s Hospital, Ruhr-University Bochum, 44801 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The Dystrophin Complex: Structure, Function, and Implications for Therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr. Physiol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1111\/jpc.12868","article-title":"Duchenne muscular dystrophy","volume":"51","author":"Yiu","year":"2015","journal-title":"J. Paediatr. Child Health"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s10654-020-00613-8","article-title":"Life expectancy at birth in Duchenne muscular dystrophy: A systematic review and meta-analysis","volume":"35","author":"Landfeldt","year":"2020","journal-title":"Eur. J. Epidemiol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1097\/WCO.0000000000000739","article-title":"Update in Duchenne and Becker muscular dystrophy","volume":"32","author":"Waldrop","year":"2019","journal-title":"Curr. Opin. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Viggiano, E., Picillo, E., Passamano, L., Onore, M.E., Piluso, G., Scutifero, M., Torella, A., Nigro, V., and Politano, L. (2023). Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy. Genes, 14.","DOI":"10.3390\/genes14010214"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0888-7543(88)90113-9","article-title":"An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus","volume":"2","author":"Monaco","year":"1988","journal-title":"Genomics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"Fokkema","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/s13023-017-0703-4","article-title":"Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan","volume":"12","author":"Okubo","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/ajmg.a.30617","article-title":"Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort","volume":"134","author":"Dent","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e554","DOI":"10.1212\/NXG.0000000000000554","article-title":"WGS and RNA Studies Diagnose Noncoding DMD Variants in Males with High Creatine Kinase","volume":"7","author":"Waddell","year":"2021","journal-title":"Neurol. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1136\/jmedgenet-2020-107113","article-title":"Practical approach to the genetic diagnosis of unsolved dystrophinopathies: A stepwise strategy in the genomic era","volume":"58","author":"Xie","year":"2021","journal-title":"J. Med. Genet."},{"key":"ref_13","first-page":"385","article-title":"Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a","volume":"41","author":"Dobrescu","year":"2015","journal-title":"Curr. Health Sci. J."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1212\/01.WNL.0000157654.59374.E5","article-title":"LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype","volume":"64","author":"Schwartz","year":"2005","journal-title":"Neurology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"S343","DOI":"10.3233\/JND-210682","article-title":"Exon-Skipping in Duchenne Muscular Dystrophy","volume":"8","author":"Takeda","year":"2021","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Sun, C., Shen, L., Zhang, Z., and Xie, X. (2020). Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update. Genes, 11.","DOI":"10.3390\/genes11080837"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Nilius-Eliliwi, V., Gerding, W.M., Schroers, R., Nguyen, H.P., and Vangala, D.B. (2023). Optical Genome Mapping for Cytogenetic Diagnostics in AML. Cancers, 15.","DOI":"10.3390\/cancers15061684"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1093\/brain\/awm212","article-title":"Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan","volume":"130","author":"Godfrey","year":"2007","journal-title":"Brain"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.nmd.2008.12.005","article-title":"Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype","volume":"19","author":"Maugenre","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1212\/01.wnl.0000346518.68110.60","article-title":"Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study","volume":"72","author":"Mercuri","year":"2009","journal-title":"Neurology"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Chung Liang, L., Sulaiman, N., and Yazid, M.D. (2022). A Decade of Progress in Gene Targeted Therapeutic Strategies in Duchenne Muscular Dystrophy: A Systematic Review. Front. Bioeng. Biotechnol., 10.","DOI":"10.3389\/fbioe.2022.833833"},{"key":"ref_22","unstructured":"Saito, K. (1993). GeneReviews\u00ae: Fukuyama Congenital Muscular Dystrophy, National Institutes of Health."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.nmd.2009.03.001","article-title":"Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation","volume":"19","author":"Puckett","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1038\/s41431-022-01190-y","article-title":"Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline","volume":"31","author":"Geng","year":"2023","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"e2028","DOI":"10.1002\/mgg3.2028","article-title":"Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing","volume":"10","author":"Zaum","year":"2022","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"100054","DOI":"10.1016\/j.xhgg.2021.100054","article-title":"RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing","volume":"3","author":"Falzarano","year":"2022","journal-title":"Hum. Genet. Genom. Adv."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s13073-017-0479-0","article-title":"Next-generation mapping: A novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis","volume":"9","author":"Barseghyan","year":"2017","journal-title":"Genome Med."},{"key":"ref_28","unstructured":"Bionano Genomics (2023, June 01). Bionano Solve Theory of Operation: Structural Variant Calling. Available online: https:\/\/bionanogenomics.com\/wp-content\/uploads\/2018\/04\/30110-Bionano-Solve-Theory-of-Operation-Structural-Variant-Calling.pdf."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/humupd\/dmh022","article-title":"A cytogeneticist\u2019s perspective on genomic microarrays","volume":"10","author":"Shaffer","year":"2004","journal-title":"Hum. Reprod. Update"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1002\/ijc.33942","article-title":"Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML\/MDS patients","volume":"150","author":"Gerding","year":"2022","journal-title":"Int. J. Cancer"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1016\/j.ajhg.2021.05.012","article-title":"Optical genome mapping enables constitutional chromosomal aberration detection","volume":"108","author":"Mantere","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Schnause, A.C., Komlosi, K., Herr, B., Neesen, J., Dremsek, P., Schwarz, T., Tzschach, A., J\u00e4gle, S., Lausch, E., and Fischer, J. (2021). Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation. Genes, 12.","DOI":"10.3390\/genes12111836"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e1665","DOI":"10.1002\/mgg3.1665","article-title":"Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey","volume":"9","author":"Cope","year":"2021","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/s41431-022-01153-3","article-title":"Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1","volume":"30","author":"Alesi","year":"2022","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Sahajpal, N.S., Barseghyan, H., Kolhe, R., Hastie, A., and Chaubey, A. (2021). Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses. Genes, 12.","DOI":"10.1101\/2021.02.19.21251714"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Dremsek, P., Schwarz, T., Weil, B., Malashka, A., Laccone, F., and Neesen, J. (2021). Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations. Genes, 12.","DOI":"10.3390\/genes12121958"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1073\/pnas.98.4.2017","article-title":"Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans","volume":"98","author":"Ohno","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1212\/WNL.0000000000003179","article-title":"Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome","volume":"87","author":"Verschuuren","year":"2016","journal-title":"Neurology"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1093\/hmg\/ddm238","article-title":"Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity","volume":"16","author":"Zhang","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1017\/S0012162201000913","article-title":"Intelligence and Duchenne muscular dystrophy: Full-scale, verbal, and performance intelligence quotients","volume":"43","author":"Cotton","year":"2001","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1007\/s12035-019-01845-w","article-title":"Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy","volume":"57","author":"Naidoo","year":"2020","journal-title":"Mol. Neurobiol."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Iskandar, K., Triono, A., Dwianingsih, E.K., Indraswari, B.W., Kirana, I.R., Ivana, G., Sutomo, R., Patria, S.Y., and Herini, E.S. (2022). Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0276640"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ng0696-223","article-title":"Characterization of DRP2, a novel human dystrophin homologue","volume":"13","author":"Roberts","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1046\/j.1365-201x.2001.00838.x","article-title":"Harnessing the potential of dystrophin-related proteins for ameliorating Duchenne\u2019s muscular dystrophy","volume":"171","author":"Krag","year":"2001","journal-title":"Acta Physiol. Scand."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-1-4939-1050-2_3","article-title":"Tissue processing and hematoxylin and eosin staining","volume":"1180","author":"Feldman","year":"2014","journal-title":"Methods Mol. Biol."},{"key":"ref_46","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. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"3094","DOI":"10.1093\/bioinformatics\/bty191","article-title":"Minimap2: Pairwise alignment for nucleotide sequences","volume":"34","author":"Li","year":"2018","journal-title":"Bioinformatics"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/s41592-018-0001-7","article-title":"Accurate detection of complex structural variations using single-molecule sequencing","volume":"15","author":"Sedlazeck","year":"2018","journal-title":"Nat. Methods"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/19\/14716\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:01:25Z","timestamp":1760130085000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/19\/14716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,28]]},"references-count":48,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2023,10]]}},"alternative-id":["ijms241914716"],"URL":"https:\/\/doi.org\/10.3390\/ijms241914716","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,28]]}}}