{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:25:40Z","timestamp":1791419140721,"version":"4.3.3"},"reference-count":32,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100012547","name":"Natural Science Foundation of Guangxi Zhuang Autonomous Region","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012547","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003454","name":"Guangxi Zhuang Autonomous Region Health Department","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003454","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018602","name":"Guangxi Innovation-Driven Development Project","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018602","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1016\/j.cca.2024.119884","type":"journal-article","created":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T16:15:01Z","timestamp":1721492101000},"page":"119884","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Detection of hemophilia A genetic variants using third-generation long-read sequencing"],"prefix":"10.1016","volume":"562","author":[{"given":"Xiaoting","family":"Ling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqiu","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunhua","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenghan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoyu","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Long","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningneng","family":"Zhai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingxing","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaqi","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongheng","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifang","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2024.119884_b0005","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/s41572-021-00278-x","article-title":"Haemophilia nature reviews","volume":"7","author":"Berntorp","year":"2021","journal-title":"Disease Primers."},{"key":"10.1016\/j.cca.2024.119884_b0010","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1055\/s-0042-1758870","article-title":"Factor VIII and Factor IX Activity Measurements for Hemophilia Diagnosis and Related Treatments","volume":"49","author":"Bowyer","year":"2023","journal-title":"Seminars in Thrombosis and Hemostasis."},{"key":"10.1016\/j.cca.2024.119884_b0015","first-page":"e280","article-title":"Prospective observational cohort studies for studying rare diseases: the European PedNet Haemophilia Registry Haemophilia:","volume":"20","author":"Fischer","year":"2014","journal-title":"The Official Journal of the World Federation of Hemophilia."},{"key":"10.1016\/j.cca.2024.119884_b0020","doi-asserted-by":"crossref","unstructured":"T. Wang, Y. Tang, Y. Tao, H. Zhou, D. Ding, Nucleic acid drug and delivery techniques for disease therapy: Present situation and future prospect, Interdisciplinary Medicine. (2024).","DOI":"10.1002\/INMD.20230041"},{"key":"10.1016\/j.cca.2024.119884_b0025","doi-asserted-by":"crossref","first-page":"e425","DOI":"10.1111\/hae.13613","article-title":"Use of two complementary new molecular techniques, next-generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report","volume":"24","author":"Gangodkar","year":"2018","journal-title":"Haemophilia : the Official Journal of the World Federation of Hemophilia."},{"key":"10.1016\/j.cca.2024.119884_b0030","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1182\/blood.V96.8.2905","article-title":"De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism","volume":"96","author":"Oldenburg","year":"2000","journal-title":"Blood."},{"key":"10.1016\/j.cca.2024.119884_b0035","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1373\/clinchem.2004.046490","article-title":"Genotyping the hemophilia inversion hotspot by use of inverse PCR","volume":"51","author":"Rossetti","year":"2005","journal-title":"Clin. Chem."},{"key":"10.1016\/j.cca.2024.119884_b0040","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1111\/j.1538-7836.2006.01840.x","article-title":"Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection","volume":"4","author":"Bagnall","year":"2006","journal-title":"Journal of Thrombosis and Haemostasis: JTH."},{"key":"10.1016\/j.cca.2024.119884_b0045","doi-asserted-by":"crossref","first-page":"7271","DOI":"10.3390\/ijms12107271","article-title":"Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR","volume":"12","author":"Rossetti","year":"2011","journal-title":"International Journal of Molecular Sciences."},{"key":"10.1016\/j.cca.2024.119884_b0050","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1111\/j.1538-7836.2008.02926.x","article-title":"Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene","volume":"6","author":"Rossetti","year":"2008","journal-title":"Journal of Thrombosis and Haemostasis: JTH."},{"key":"10.1016\/j.cca.2024.119884_b0055","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.blre.2016.08.003","article-title":"Genetic diagnosis in hemophilia and von Willebrand disease","volume":"31","author":"Swystun","year":"2017","journal-title":"Blood Reviews."},{"key":"10.1016\/j.cca.2024.119884_b0060","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1111\/hae.14824","article-title":"Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non-severe haemophilia A","volume":"29","author":"Dericquebourg","year":"2023","journal-title":"Haemophilia: the Official Journal of the World Federation of Hemophilia."},{"key":"10.1016\/j.cca.2024.119884_b0065","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/nrg2626","article-title":"Sequencing technologies - the next generation","volume":"11","author":"Metzker","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.cca.2024.119884_b0070","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1111\/j.1538-7836.2012.04843.x","article-title":"Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening","volume":"10","author":"Payne","year":"2012","journal-title":"Journal of Thrombosis and Haemostasis: JTH."},{"issue":"Suppl 4","key":"10.1016\/j.cca.2024.119884_b0075","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/hae.12424","article-title":"Genomics of bleeding disorders","volume":"20","author":"Goodeve","year":"2014","journal-title":"Haemophilia: the Official Journal of the World Federation of Hemophilia."},{"key":"10.1016\/j.cca.2024.119884_b0080","article-title":"Third-generation sequencing for genetic disease Clinica chimica acta","volume":"551","author":"Ling","year":"2023","journal-title":"Int. J. Clinical Chemistry."},{"key":"10.1016\/j.cca.2024.119884_b0085","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1016\/j.jmoldx.2021.06.008","article-title":"A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)","volume":"23","author":"Liang","year":"2021","journal-title":"The Journal of Molecular Diagnostics : JMD."},{"key":"10.1016\/j.cca.2024.119884_b0090","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1093\/clinchem\/hvac046","article-title":"Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing","volume":"68","author":"Liu","year":"2022","journal-title":"Clin Chem."},{"key":"10.1016\/j.cca.2024.119884_b0095","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1016\/j.jmoldx.2022.05.001","article-title":"Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing","volume":"24","author":"Li","year":"2022","journal-title":"The Journal of Molecular Diagnostics : JMD."},{"key":"10.1016\/j.cca.2024.119884_b0100","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1093\/clinchem\/hvac154","article-title":"Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing","volume":"68","author":"Liang","year":"2022","journal-title":"Clin Chem."},{"key":"10.1016\/j.cca.2024.119884_b0105","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1055\/a-2107-0702","article-title":"Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing","volume":"123","author":"Liu","year":"2023","journal-title":"Thrombosis and Haemostasis."},{"key":"10.1016\/j.cca.2024.119884_b0110","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1182\/blood.V99.1.168","article-title":"Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A","volume":"99","author":"Bagnall","year":"2002","journal-title":"Blood."},{"key":"10.1016\/j.cca.2024.119884_b0115","doi-asserted-by":"crossref","first-page":"163","DOI":"10.21037\/tp.2020.03.06","article-title":"The third generation sequencing: the advanced approach to genetic diseases","volume":"9","author":"Xiao","year":"2020","journal-title":"Transl Pediatr."},{"key":"10.1016\/j.cca.2024.119884_b0120","doi-asserted-by":"crossref","first-page":"5722","DOI":"10.3892\/mmr.2017.7263","article-title":"Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population","volume":"16","author":"Cao","year":"2017","journal-title":"Molecular Medicine Reports."},{"key":"10.1016\/j.cca.2024.119884_b0125","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.thromres.2021.02.027","article-title":"The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees","volume":"202","author":"Chen","year":"2021","journal-title":"Thrombosis Research."},{"key":"10.1016\/j.cca.2024.119884_b0130","doi-asserted-by":"crossref","DOI":"10.1016\/j.jtha.2024.03.002","article-title":"Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A","author":"Jourdy","year":"2024","journal-title":"Journal of Thrombosis and Haemostasis : JTH."},{"key":"10.1016\/j.cca.2024.119884_b0135","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s13577-017-0168-8","article-title":"Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area","volume":"30","author":"Nakano","year":"2017","journal-title":"Hum Cell."},{"key":"10.1016\/j.cca.2024.119884_b0140","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1146\/annurev-genom-101722-103045","article-title":"Long-Read DNA Sequencing: Recent Advances and Remaining Challenges","volume":"24","author":"Warburton","year":"2023","journal-title":"Annual Review of Genomics and Human Genetics."},{"key":"10.1016\/j.cca.2024.119884_b0145","first-page":"824","article-title":"Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life","volume":"1","author":"Johnsen","year":"2017","journal-title":"Our Future Initiative, Blood Advances."},{"key":"10.1016\/j.cca.2024.119884_b0150","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1111\/hae.13569","article-title":"Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia","volume":"24","author":"Lannoy","year":"2018","journal-title":"Haemophilia : the Official Journal of the World Federation of Hemophilia."},{"key":"10.1016\/j.cca.2024.119884_b0155","doi-asserted-by":"crossref","first-page":"9907","DOI":"10.1038\/s41598-022-14038-8","article-title":"Analysis of rare thalassemia genetic variants based on third-generation sequencing","volume":"12","author":"Peng","year":"2022","journal-title":"Scientific Reports."},{"key":"10.1016\/j.cca.2024.119884_b0160","doi-asserted-by":"crossref","first-page":"2631","DOI":"10.1038\/s41467-023-38324-9","article-title":"High-throughput and high-accuracy single-cell RNA isoform analysis using PacBio circular consensus sequencing","volume":"14","author":"Shi","year":"2023","journal-title":"Nature Communications."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898124021375?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898124021375?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T12:52:45Z","timestamp":1723553565000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898124021375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":32,"alternative-id":["S0009898124021375"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2024.119884","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Detection of hemophilia A genetic variants using third-generation long-read sequencing","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2024.119884","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"119884"}}