{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:09:49Z","timestamp":1787587789133,"version":"build-2736575974"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion\/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis. Balanced\/unbalanced SVs and regions with absence of heterozygosity (AOH) were detected and classified independently, and comparisons were made between mate-pair sequencing and CMA to assess concordance. In addition, novel SVs were investigated for potential RNA perturbations using cultured cells, whenever available.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Mate-pair sequencing and CMA successfully yielded results for all 426 fetuses without the need for cell culturing. In addition, mate-pair sequencing identified 19 cases with aneuploidies, 16 cases with pathogenic simple deletions\/duplications, and 5 cases with pathogenic translocations\/insertions, providing a 25% incremental diagnostic yield compared to CMA (9.4%, 40\/426 vs 7.6%, 32\/426). Furthermore, by identifying the location and orientation of SVs, mate-pair sequencing improved the variant interpretation and\/or follow-up approach for 40.0% (12) of the 30 cases with likely clinically significant deletions\/duplications reported by CMA. Lastly, both platforms reported 3 cases (3\/426) with multiple regions of AOH likely attributable to parental consanguinity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Mate-pair sequencing detects additional balanced\/unbalanced SVs and improves variant interpretation in comparison to CMA, indicating its potential to serve as a comprehensive prenatal cytogenomic diagnostic method.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/clinchem\/hvae146","type":"journal-article","created":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T09:50:54Z","timestamp":1735897854000},"page":"155-168","source":"Crossref","is-referenced-by-count":5,"title":["Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics"],"prefix":"10.1093","volume":"71","author":[{"given":"Jicheng","family":"Qian","sequence":"first","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]},{"name":"Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huilin","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Maternal-Fetal Medicine Institute, Bao\u2019an Maternity and Child Health Hospital affiliated with Jinan University School of Medicine , Shenzhen ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailei","family":"Liang","sequence":"additional","affiliation":[{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuting","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]},{"name":"Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingyang","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]},{"name":"Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing Ting","family":"Tse","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel Hoi Wan","family":"Kwan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie Kwun Long","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella Yi Man","family":"Wah","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4198-1709","authenticated-orcid":false,"given":"So Ling","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuk Yi Annie","family":"Hui","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew Hoi Kin","family":"Chau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]},{"name":"Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong SAR ,","place":["China"]},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3719-6601","authenticated-orcid":false,"given":"Xiaoyan","family":"Chen","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Maternal-Fetal Medicine Institute, Bao\u2019an Maternity and Child Health Hospital affiliated with Jinan University School of Medicine , Shenzhen ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Maternal-Fetal Medicine Institute, Bao\u2019an Maternity and Child Health Hospital affiliated with Jinan University School of Medicine , Shenzhen ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liona C","family":"Poon","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tak Yeung","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Liu","sequence":"additional","affiliation":[{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong SAR ,","place":["China"]},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]},{"name":"Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong SAR ,","place":["China"]},{"name":"Fertility Preservation Research Center, Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3626-6500","authenticated-orcid":false,"given":"Zirui","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen ,","place":["China"]},{"name":"Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]},{"name":"Fertility Preservation Research Center, Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,1,3]]},"reference":[{"key":"2025010523242444400_hvae146-B1","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/pd.6151","article-title":"Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects","volume":"42","author":"Cao","year":"2022","journal-title":"Prenat Diagn"},{"key":"2025010523242444400_hvae146-B2","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1056\/NEJMoa1406829","article-title":"TBX6 null variants and a common hypomorphic allele in congenital scoliosis","volume":"372","author":"Wu","year":"2015","journal-title":"N Engl J Med"},{"key":"2025010523242444400_hvae146-B3","doi-asserted-by":"crossref","first-page":"761","DOI":"10.3389\/fgene.2019.00761","article-title":"Prenatal diagnosis of fetuses with increased nuchal translucency by genome sequencing analysis","volume":"10","author":"Choy","year":"2019","journal-title":"Front Genet"},{"key":"2025010523242444400_hvae146-B4","doi-asserted-by":"crossref","first-page":"376","DOI":"10.3390\/genes12030376","article-title":"Whole genome sequencing in the evaluation of fetal structural anomalies: a parallel test with chromosomal microarray plus whole exome sequencing","volume":"12","author":"Zhou","year":"2021","journal-title":"Genes (Basel)"},{"key":"2025010523242444400_hvae146-B5","doi-asserted-by":"crossref","first-page":"493.e1","DOI":"10.1016\/j.ajog.2019.06.007","article-title":"Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis","volume":"221","author":"Chau","year":"2019","journal-title":"Am J Obstet Gynecol"},{"key":"2025010523242444400_hvae146-B6","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for prenatal diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N Engl J Med"},{"key":"2025010523242444400_hvae146-B7","doi-asserted-by":"crossref","first-page":"803088","DOI":"10.3389\/fgene.2022.803088","article-title":"Investigation of chromosomal structural abnormalities in patients with undiagnosed neurodevelopmental disorders","volume":"13","author":"Cao","year":"2022","journal-title":"Front Genet"},{"key":"2025010523242444400_hvae146-B8","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/pd.5375","article-title":"Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: results from 5026 pregnancies","volume":"39","author":"Wang","year":"2019","journal-title":"Prenat Diagn"},{"key":"2025010523242444400_hvae146-B9","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1016\/j.fertnstert.2017.01.022","article-title":"Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens","volume":"107","author":"Shah","year":"2017","journal-title":"Fertil Steril"},{"key":"2025010523242444400_hvae146-B10","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1093\/clinchem\/hvae031","article-title":"Prospective investigation of optical genome mapping for prenatal genetic diagnosis","volume":"70","author":"Xie","year":"2024","journal-title":"Clin Chem"},{"key":"2025010523242444400_hvae146-B11","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1038\/s41436-019-0634-7","article-title":"Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis","volume":"22","author":"Wang","year":"2020","journal-title":"Genet Med"},{"key":"2025010523242444400_hvae146-B12","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/j.jmoldx.2020.03.008","article-title":"Low-pass genome sequencing: validation and diagnostic utility from 409 clinical cases of low-pass genome sequencing for the detection of copy number variants to replace constitutional microarray","volume":"22","author":"Chaubey","year":"2020","journal-title":"J Mol Diagn"},{"key":"2025010523242444400_hvae146-B13","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1038\/gim.2015.199","article-title":"Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach","volume":"18","author":"Dong","year":"2016","journal-title":"Genet Med"},{"key":"2025010523242444400_hvae146-B14","doi-asserted-by":"crossref","first-page":"100316","DOI":"10.1016\/j.gim.2022.09.017","article-title":"Points to consider in the detection of germline structural variants using next-generation sequencing: a statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Raca","year":"2023","journal-title":"Genet Med"},{"key":"2025010523242444400_hvae146-B15","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/ng.3720","article-title":"The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies","volume":"49","author":"Redin","year":"2017","journal-title":"Nat Genet"},{"key":"2025010523242444400_hvae146-B16","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1007\/s00439-020-02210-x","article-title":"Deciphering the complexity of simple chromosomal insertions by genome sequencing","volume":"140","author":"Dong","year":"2021","journal-title":"Hum Genet"},{"key":"2025010523242444400_hvae146-B17","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1007\/s00439-020-02185-9","article-title":"Low-pass genome sequencing: a validated method in clinical cytogenetics","volume":"139","author":"Chau","year":"2020","journal-title":"Hum Genet"},{"key":"2025010523242444400_hvae146-B18","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1002\/uog.13384","article-title":"Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?","volume":"43","author":"Huang","year":"2014","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025010523242444400_hvae146-B19","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1093\/dnares\/dsz011","article-title":"Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assay","volume":"26","author":"Dong","year":"2019","journal-title":"DNA Res"},{"key":"2025010523242444400_hvae146-B20","doi-asserted-by":"crossref","first-page":"giab008","DOI":"10.1093\/gigascience\/giab008","article-title":"Twelve years of SAMtools and BCFtools","volume":"10","author":"Danecek","year":"2021","journal-title":"Gigascience"},{"key":"2025010523242444400_hvae146-B21","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.ajhg.2019.10.003","article-title":"Genome sequencing explores complexity of chromosomal abnormalities in recurrent miscarriage","volume":"105","author":"Dong","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2025010523242444400_hvae146-B22","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1038\/s41436-021-01128-7","article-title":"Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics","volume":"23","author":"Dong","year":"2021","journal-title":"Genet Med"},{"key":"2025010523242444400_hvae146-B23","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s00439-022-02510-4","article-title":"Mate-pair genome sequencing reveals structural variants for idiopathic male infertility","volume":"142","author":"Dong","year":"2023","journal-title":"Hum Genet"},{"key":"2025010523242444400_hvae146-B24","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"key":"2025010523242444400_hvae146-B25","doi-asserted-by":"crossref","first-page":"bax028","DOI":"10.1093\/database\/bax028","article-title":"Genehancer: genome-wide integration of enhancers and target genes in genecards","volume":"2017","author":"Fishilevich","year":"2017","journal-title":"Database (Oxford)"},{"issue":"D1","key":"2025010523242444400_hvae146-B26","doi-asserted-by":"crossref","first-page":"D52","DOI":"10.1093\/nar\/gkx1017","article-title":"3DIV: a 3D-genome interaction viewer and database","volume":"46","author":"Yang","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2025010523242444400_hvae146-B27","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.gim.2021.10.004","article-title":"Interpretation and reporting of large regions of homozygosity and suspected consanguinity\/uniparental disomy, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)","volume":"24","author":"Gonzales","year":"2022","journal-title":"Genet Med"},{"key":"2025010523242444400_hvae146-B28","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.3390\/genes14071357","article-title":"Low-pass genome sequencing-based detection of paternity: validation in clinical cytogenetics","volume":"14","author":"Li","year":"2023","journal-title":"Genes (Basel)"},{"issue":"D1","key":"2025010523242444400_hvae146-B29","doi-asserted-by":"crossref","first-page":"D1168","DOI":"10.1093\/nar\/gkac978","article-title":"TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms","volume":"51","author":"Zhou","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"2025010523242444400_hvae146-B30","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/humu.22541","article-title":"A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing","volume":"35","author":"Dong","year":"2014","journal-title":"Hum Mutat"},{"key":"2025010523242444400_hvae146-B31","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1038\/gim.2017.170","article-title":"Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 genomes project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics","volume":"20","author":"Dong","year":"2018","journal-title":"Genet Med"},{"key":"2025010523242444400_hvae146-B32","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"2025010523242444400_hvae146-B33","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1126\/science.aac9396","article-title":"De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies","volume":"350","author":"Homsy","year":"2015","journal-title":"Science"},{"key":"2025010523242444400_hvae146-B34","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1161\/CIRCRESAHA.115.304458","article-title":"Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data","volume":"115","author":"Glessner","year":"2014","journal-title":"Circ Res"},{"key":"2025010523242444400_hvae146-B35","doi-asserted-by":"crossref","first-page":"e22488","DOI":"10.1096\/fj.202200156RR","article-title":"DCBLD2 regulates vascular hyperplasia by modulating the platelet derived growth factor receptor-\u03b2 endocytosis through caveolin-1 in vascular smooth muscle cells","volume":"36","author":"Wang","year":"2022","journal-title":"FASEB J"},{"key":"2025010523242444400_hvae146-B36","doi-asserted-by":"crossref","first-page":"12861","DOI":"10.1038\/s41598-021-92026-0","article-title":"A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy","volume":"11","author":"Alhamoudi","year":"2021","journal-title":"Sci Rep"},{"key":"2025010523242444400_hvae146-B37","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/s41525-021-00192-x","article-title":"Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease","volume":"6","author":"Sweeney","year":"2021","journal-title":"NPJ Genom Med"},{"key":"2025010523242444400_hvae146-B38","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1001\/jama.2023.9350","article-title":"Rapid whole-genomic sequencing and a targeted neonatal gene panel in infants with a suspected genetic disorder","volume":"330","author":"Maron","year":"2023","journal-title":"JAMA"},{"key":"2025010523242444400_hvae146-B39","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.ajhg.2024.03.007","article-title":"The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing","volume":"111","author":"Li","year":"2024","journal-title":"Am J Hum Genet"}],"container-title":["Clinical Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/clinchem\/article-pdf\/71\/1\/155\/61284035\/hvae146.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/clinchem\/article-pdf\/71\/1\/155\/61284035\/hvae146.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T04:24:37Z","timestamp":1736137477000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/clinchem\/article\/71\/1\/155\/7933591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":39,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,3]]},"published-print":{"date-parts":[[2025,1,3]]}},"URL":"https:\/\/doi.org\/10.1093\/clinchem\/hvae146","relation":{},"ISSN":["0009-9147","1530-8561"],"issn-type":[{"value":"0009-9147","type":"print"},{"value":"1530-8561","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,1]]},"published":{"date-parts":[[2025,1]]}}}