{"id":"https://openalex.org/W4414740541","doi":"https://doi.org/10.1093/clinchem/hvaf086.603","title":"B-214 Migration of a Previously Validated Sequencing Workflow of 4,700 Genes Associated with Clinical Phenotypes to the MGI DNBSEQ-G400 Platform: High-Quality NGS Data with Elevated Concordance to Expected Results","display_name":"B-214 Migration of a Previously Validated Sequencing Workflow of 4,700 Genes Associated with Clinical Phenotypes to the MGI DNBSEQ-G400 Platform: High-Quality NGS Data with Elevated Concordance to Expected Results","publication_year":2025,"publication_date":"2025-10-01","ids":{"openalex":"https://openalex.org/W4414740541","doi":"https://doi.org/10.1093/clinchem/hvaf086.603"},"language":"en","primary_location":{"id":"doi:10.1093/clinchem/hvaf086.603","doi":"https://doi.org/10.1093/clinchem/hvaf086.603","is_oa":true,"landing_page_url":"https://doi.org/10.1093/clinchem/hvaf086.603","pdf_url":"https://academic.oup.com/clinchem/article-pdf/71/Supplement_1/hvaf086.603/64461267/hvaf086.603.pdf","source":{"id":"https://openalex.org/S139212996","display_name":"Clinical Chemistry","issn_l":"0009-9147","issn":["0009-9147","1530-8561"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320272","host_organization_name":"American Association for Clinical Chemistry","host_organization_lineage":["https://openalex.org/P4310320272"],"host_organization_lineage_names":["American Association for Clinical Chemistry"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Chemistry","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/clinchem/article-pdf/71/Supplement_1/hvaf086.603/64461267/hvaf086.603.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056077075","display_name":"Gustavo Barcelos Barra","orcid":"https://orcid.org/0000-0002-2136-3471","observed_orcids":["https://orcid.org/0000-0002-2136-3471"]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Gustavo Barra","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Lorena Gama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Lorena Gama","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112656232","display_name":"Leticia Ferreira Santos Brito","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Let\u00edcia Brito","raw_affiliation_strings":["Sabin, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107711163","display_name":"Gabriela Togawa Meguerditchian","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Gabriela Meguerditchian","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089250550","display_name":"Anderson Coqueiro dos Santos","orcid":"https://orcid.org/0000-0002-7079-3224","observed_orcids":["https://orcid.org/0000-0002-7079-3224"]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Anderson Coqueiro","raw_affiliation_strings":["Sabin Medicina Diagnostica, Brasilia/DF, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Medicina Diagnostica, Brasilia/DF, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031336763","display_name":"Pedro G\u00f3es Mesquita","orcid":"https://orcid.org/0000-0003-1783-4557","observed_orcids":["https://orcid.org/0000-0003-1783-4557"]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Pedro Mesquita","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007641705","display_name":"Nara Diniz Soares Pessoa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Nara Pessoa","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Rosenelle Benicio","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Rosenelle Benicio","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047425363","display_name":"Il\u00e1ria Cristina Sgardioli","orcid":"https://orcid.org/0000-0002-7253-7830","observed_orcids":["https://orcid.org/0000-0002-7253-7830"]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Il\u00e1ria Sgardioli","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Amanda Lamas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Amanda Lamas","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Alessandra Andrade","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Alessandra Andrade","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091226799","display_name":"Graciella Ribeiro Martins","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Graciella Martins","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Rafael J\u00e1como","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Rafael J\u00e1como","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109153825","display_name":"L\u00eddia Freire Abdalla Nery","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098766","display_name":"Sabin Medicina Diagnostica (Brazil)","ror":"https://ror.org/011djka92","country_code":"BR","type":"company","lineage":["https://openalex.org/I4210098766"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"L\u00eddia Nery","raw_affiliation_strings":["Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sabin Diagn\u00f3stico e Sa\u00fade, Bras\u00edlia, Brazil","institution_ids":["https://openalex.org/I4210098766"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210098766"],"apc_list":{"value":4636,"currency":"USD","value_usd":4636},"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"71","issue":"Supplement_1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.005799999926239252,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/clinical-exome-sequencing","display_name":"clinical exome sequencing","score":0.3930000066757202},{"id":"https://openalex.org/keywords/single-nucleotide-variants","display_name":"single nucleotide variants","score":0.8349999785423279},{"id":"https://openalex.org/keywords/insertion-deletion-variants","display_name":"insertion-deletion variants","score":0.7820000052452087},{"id":"https://openalex.org/keywords/hybrid-capture","display_name":"hybridization capture","score":0.5879999995231628},{"id":"https://openalex.org/keywords/variant-detection-sensitivity","display_name":"variant detection sensitivity","score":0.31700000166893005},{"id":"https://openalex.org/keywords/sequencing-quality","display_name":"sequencing data quality","score":0.36800000071525574},{"id":"https://openalex.org/keywords/f-measure","display_name":"F-measure","score":0.5090000033378601}],"concepts":[{"id":"https://openalex.org/C160798450","wikidata":"https://www.wikidata.org/wiki/Q4230870","display_name":"Concordance","level":2,"score":0.8240000009536743},{"id":"https://openalex.org/C177212765","wikidata":"https://www.wikidata.org/wiki/Q627335","display_name":"Workflow","level":2,"score":0.6154000163078308},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5735999941825867},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5515000224113464},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5016999840736389},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.47870001196861267},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46790000796318054},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4162999987602234},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.3984000086784363},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.3935000002384186},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.31520000100135803},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.30640000104904175},{"id":"https://openalex.org/C61053724","wikidata":"https://www.wikidata.org/wiki/Q1154615","display_name":"Sequence analysis","level":3,"score":0.27090001106262207},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2623000144958496},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.2581000030040741}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/clinchem/hvaf086.603","doi":"https://doi.org/10.1093/clinchem/hvaf086.603","is_oa":true,"landing_page_url":"https://doi.org/10.1093/clinchem/hvaf086.603","pdf_url":"https://academic.oup.com/clinchem/article-pdf/71/Supplement_1/hvaf086.603/64461267/hvaf086.603.pdf","source":{"id":"https://openalex.org/S139212996","display_name":"Clinical Chemistry","issn_l":"0009-9147","issn":["0009-9147","1530-8561"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320272","host_organization_name":"American Association for Clinical Chemistry","host_organization_lineage":["https://openalex.org/P4310320272"],"host_organization_lineage_names":["American Association for Clinical Chemistry"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Chemistry","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1093/clinchem/hvaf086.603","doi":"https://doi.org/10.1093/clinchem/hvaf086.603","is_oa":true,"landing_page_url":"https://doi.org/10.1093/clinchem/hvaf086.603","pdf_url":"https://academic.oup.com/clinchem/article-pdf/71/Supplement_1/hvaf086.603/64461267/hvaf086.603.pdf","source":{"id":"https://openalex.org/S139212996","display_name":"Clinical Chemistry","issn_l":"0009-9147","issn":["0009-9147","1530-8561"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320272","host_organization_name":"American Association for Clinical Chemistry","host_organization_lineage":["https://openalex.org/P4310320272"],"host_organization_lineage_names":["American Association for Clinical Chemistry"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Chemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4414740541.pdf","grobid_xml":"https://content.openalex.org/works/W4414740541.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4409883580","https://openalex.org/W4409739516","https://openalex.org/W2152359484","https://openalex.org/W4416939701","https://openalex.org/W2468638035","https://openalex.org/W7214331793","https://openalex.org/W7095576588","https://openalex.org/W4415704549","https://openalex.org/W2199652871","https://openalex.org/W2885045686"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Advances":[2],"in":[3,76,451,462,485],"next-generation":[4],"sequencing":[5,31,463],"(NGS)":[6],"have":[7],"significantly":[8],"enhanced":[9],"clinical":[10,63,486],"diagnostics":[11],"by":[12,415],"enabling":[13],"comprehensive":[14],"analysis":[15],"of":[16,50,62,73,78,221,233,240,255,297,306,308,318,339,362,421,435,456,481],"genes":[17,52],"associated":[18],"with":[19,53,91,120,170,223,242,284,341],"various":[20],"inherited":[21],"disorders.":[22],"This":[23],"study":[24,251,458],"aimed":[25],"to":[26,69,87,179,321,402],"transfer":[27],"a":[28,48,59,224,295,311,360],"previously":[29],"validated":[30],"workflow\u2014originally":[32],"executed":[33],"on":[34,97,142,151,202],"the":[35,39,71,74,98,112,121,143,152,159,166,171,181,198,203,215,219,250,253,266,273,276,285,322,336,349,394,400,403,438,448,460,479,482],"NextSeq-500":[36,144,277,401],"(Illumina,":[37,206],"Inc.)\u2014to":[38],"DNBSEQ-G400":[40,75,153,216,274,293,405,408,483],"platform":[41,145,154,205,484],"(MGI":[42],"Tech":[43],"Co.).":[44],"The":[45,292,328,374,390,407],"workflow":[46,395],"targets":[47],"panel":[49],"4,700":[51,128],"well-established":[54],"gene-disease":[55],"associations":[56],"that":[57,393],"span":[58],"broad":[60],"range":[61],"phenotypes.":[64],"Our":[65],"primary":[66],"objectives":[67],"were":[68,168,217],"evaluate":[70],"performance":[72,212],"terms":[77],"data":[79],"yield,":[80],"quality,":[81],"and":[82,86,94,118,130,149,192,245,260,264,271,275,288,316,348,367,383,430],"variant":[83,193],"calling":[84,358],"accuracy,":[85],"assess":[88],"its":[89],"concordance":[90],"variants":[92,258],"(SNVs":[93],"INDELs)":[95],"detected":[96],"NextSeq-500.":[99],"Methods":[100],"An":[101],"NGS":[102,411],"library":[103],"representing":[104],"12":[105],"patients\u2014whose":[106],"saliva-derived":[107],"DNA":[108,114,137,183,185],"was":[109,164,195,332,344,353,377,442],"prepared":[110],"using":[111,197],"xGEN":[113],"Library":[115],"Prep":[116],"kit":[117,133],"enriched":[119],"xGen":[122],"Inherited":[123],"Disease":[124],"Panel":[125],"V1":[126],"(covering":[127],"genes)":[129],"Hybridization":[131],"Capture":[132],"(all":[134],"from":[135,399],"Integrated":[136],"Technologies,":[138],"Inc.)\u2014was":[139],"initially":[140],"sequenced":[141],"(paired-end":[146,155,466],"150-cycle":[147,467],"runs)":[148],"also":[150],"300-cycle":[156,469],"runs).":[157],"For":[158,208],"DNBSEQ-G400,":[160],"an":[161],"additional":[162],"step":[163],"required:":[165],"libraries":[167],"processed":[169],"DNBSEQ\u2122":[172],"OneStep":[173],"DNB":[174],"Make":[175],"Reagent":[176],"Kit":[177],"V4.0":[178],"convert":[180],"linear":[182],"into":[184],"nanoballs.":[186],"Data":[187,279],"processing,":[188],"including":[189],"sequence":[190],"alignment":[191],"calling,":[194],"performed":[196],"Dragen":[199],"v.4.2.4":[200],"pipeline":[201],"EMEDGENE":[204],"Inc.).":[207],"each":[209],"sample,":[210],"key":[211],"metrics":[213],"for":[214,379,385,440],"computed\u2014namely,":[218],"percentage":[220,232,239,338],"bases":[222,241,309,340,422],"quality":[225,418],"score":[226,313],">":[227,423],"Q30,":[228],"total":[229],"read":[230],"counts,":[231],"mapped":[234,320],"reads,":[235],"average":[236,330],"coverage":[237,243,331,342],"depth,":[238],">20X,":[244],"duplication":[246,351],"rate.":[247],"In":[248],"addition,":[249],"compared":[252],"number":[254],"single":[256],"nucleotide":[257],"(SNVs)":[259],"insertion/deletion":[261],"events":[262],"(INDELs)":[263],"calculated":[265],"F-measure\u2014a":[267],"metric":[268],"integrating":[269],"precision":[270],"recall\u2014between":[272],"platforms.":[278],"are":[280],"presented":[281],"as":[282,413],"medians":[283],"corresponding":[286],"minimum":[287],"maximum":[289],"ranges.":[290],"Results":[291],"generated":[294,409],"median":[296,305,329,337,350,361],"54,143,871":[298],"reads":[299,319],"per":[300,372],"sample":[301],"(range:":[302,314,326,334,346,355,365,370,381,387],"31,912,278\u201372,109,870).":[303],"A":[304,454],"93.06%":[307,420],"exceeded":[310],"Q30":[312],"93.03%\u201393.22%),":[315],"99.1%":[317],"human":[323],"reference":[324],"genome":[325],"98.02%\u201399.32%).":[327],"397X":[333],"230X\u2013537X),":[335],">20X":[343],"99.7%":[345],"99.60%\u201399.80%),":[347],"rate":[352],"13.52%":[354],"12.37%\u201315.09%).":[356],"Variant":[357],"identified":[359],"7,709":[363],"SNVs":[364,380],"7,437\u20138,028)":[366],"344":[368],"INDELs":[369,386,441],"329\u2013367)":[371],"sample.":[373],"comparative":[375],"F-measure":[376,439],"99%":[378],"98.5%\u201399.5%)":[382],"82.3%":[384],"79.3%\u201384.6%).":[388],"Conclusion":[389],"results":[391],"suggest":[392],"can":[396],"be":[397],"migrated":[398],"MGI":[404],"platform.":[406],"high-quality":[410],"data,":[412],"evidenced":[414],"robust":[416],"base":[417],"(median":[419,428],"Q30),":[424],"high":[425],"mapping":[426],"rates":[427],"99.1%),":[429],"strong":[431],"SNV":[432],"detection":[433],"(F-measure":[434],"99%).":[436],"Although":[437],"82.3%,":[443],"this":[444,457],"is":[445,459],"expected":[446],"given":[447],"inherent":[449],"challenges":[450],"indel":[452],"detection.":[453],"limitation":[455],"difference":[461],"cycle":[464],"numbers":[465],"vs.":[468],"runs),":[470],"which":[471],"may":[472],"affect":[473],"direct":[474],"comparisons.":[475],"These":[476],"findings":[477],"support":[478],"adoption":[480],"settings.":[487]},"counts_by_year":[],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2025-10-10T00:00:00"}
