{"id":"https://openalex.org/W4225472640","doi":"https://doi.org/10.1016/j.gpb.2021.06.003","title":"JAX-CNV: A Whole-Genome Sequencing-Based Algorithm for Copy Number Detection at Clinical Grade Level","display_name":"JAX-CNV: A Whole-Genome Sequencing-Based Algorithm for Copy Number Detection at Clinical Grade Level","publication_year":2022,"publication_date":"2022-01-25","ids":{"openalex":"https://openalex.org/W4225472640","doi":"https://doi.org/10.1016/j.gpb.2021.06.003","pmid":"https://pubmed.ncbi.nlm.nih.gov/35085778"},"language":"en","primary_location":{"is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gpb.2021.06.003","pdf_url":null,"source":{"id":"https://openalex.org/S155547894","display_name":"Genomics Proteomics & Bioinformatics","issn_l":"1672-0229","issn":["1672-0229","2210-3244"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true},"type":"article","type_crossref":"journal-article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1016/j.gpb.2021.06.003","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001680747","display_name":"Wan\u2010Ping Lee","orcid":"https://orcid.org/0000-0002-5305-1181"},"institutions":[{"id":"https://openalex.org/I4210121771","display_name":"First Affiliated Hospital of Xi'an Jiaotong University","ror":"https://ror.org/02tbvhh96","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210121771"]},{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]},{"id":"https://openalex.org/I87445476","display_name":"Xi'an Jiaotong University","ror":"https://ror.org/017zhmm22","country_code":"CN","type":"education","lineage":["https://openalex.org/I87445476"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["CN","US"],"is_corresponding":true,"raw_author_name":"Wan-Ping Lee","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104 , USA","Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China","School of Cyber Science and Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China","institution_ids":["https://openalex.org/I4210121771"]},{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]},{"raw_affiliation_string":"School of Cyber Science and Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","institution_ids":["https://openalex.org/I87445476"]},{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104 , USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000377378","display_name":"Qihui Zhu","orcid":"https://orcid.org/0000-0003-2401-8443"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qihui Zhu","raw_affiliation_strings":["The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070230762","display_name":"Xiaofei Yang","orcid":"https://orcid.org/0000-0002-5118-7755"},"institutions":[{"id":"https://openalex.org/I87445476","display_name":"Xi'an Jiaotong University","ror":"https://ror.org/017zhmm22","country_code":"CN","type":"education","lineage":["https://openalex.org/I87445476"]},{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["CN","US"],"is_corresponding":false,"raw_author_name":"Xiaofei Yang","raw_affiliation_strings":["MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","institution_ids":["https://openalex.org/I87445476"]},{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]},{"raw_affiliation_string":"School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","institution_ids":["https://openalex.org/I87445476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026265047","display_name":"Silvia Liu","orcid":"https://orcid.org/0000-0002-1840-9520"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Silvia Liu","raw_affiliation_strings":["The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056556792","display_name":"Eliza Cerveira","orcid":"https://orcid.org/0000-0001-8915-3334"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eliza Cerveira","raw_affiliation_strings":["The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003141918","display_name":"Mallory Ryan","orcid":"https://orcid.org/0000-0001-5428-0018"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mallory Ryan","raw_affiliation_strings":["The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063131911","display_name":"Adam Mil-Homens","orcid":"https://orcid.org/0000-0003-2259-4906"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adam Mil-Homens","raw_affiliation_strings":["The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050874336","display_name":"Lauren Bellfy","orcid":"https://orcid.org/0000-0001-9846-7319"},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lauren Bellfy","raw_affiliation_strings":["The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032548139","display_name":"Kai Ye","orcid":"https://orcid.org/0000-0002-2851-6741"},"institutions":[{"id":"https://openalex.org/I4210121771","display_name":"First Affiliated Hospital of Xi'an Jiaotong University","ror":"https://ror.org/02tbvhh96","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210121771"]},{"id":"https://openalex.org/I87445476","display_name":"Xi'an Jiaotong University","ror":"https://ror.org/017zhmm22","country_code":"CN","type":"education","lineage":["https://openalex.org/I87445476"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Kai Ye","raw_affiliation_strings":["MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China"],"affiliations":[{"raw_affiliation_string":"Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China","institution_ids":["https://openalex.org/I4210121771"]},{"raw_affiliation_string":"MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049 , China","institution_ids":["https://openalex.org/I87445476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100716198","display_name":"Charles Lee","orcid":"https://orcid.org/0000-0001-7317-6662"},"institutions":[{"id":"https://openalex.org/I4210121771","display_name":"First Affiliated Hospital of Xi'an Jiaotong University","ror":"https://ror.org/02tbvhh96","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210121771"]},{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]},{"id":"https://openalex.org/I138925566","display_name":"Ewha Womans University","ror":"https://ror.org/053fp5c05","country_code":"KR","type":"education","lineage":["https://openalex.org/I138925566"]}],"countries":["CN","KR","US"],"is_corresponding":false,"raw_author_name":"Charles Lee","raw_affiliation_strings":["Department of Life Sciences, Ewha Womans University , Seoul 03760 , South Korea","Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China","The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China","institution_ids":["https://openalex.org/I4210121771"]},{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]},{"raw_affiliation_string":"Department of Life Sciences, Ewha Womans University , Seoul 03760 , South Korea","institution_ids":["https://openalex.org/I138925566"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101954659","display_name":"Chengsheng Zhang","orcid":"https://orcid.org/0000-0002-5238-083X"},"institutions":[{"id":"https://openalex.org/I4210121771","display_name":"First Affiliated Hospital of Xi'an Jiaotong University","ror":"https://ror.org/02tbvhh96","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210121771"]},{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["CN","US"],"is_corresponding":true,"raw_author_name":"Chengsheng Zhang","raw_affiliation_strings":["Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China","The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"],"affiliations":[{"raw_affiliation_string":"Precision Medicine Center, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061 , China","institution_ids":["https://openalex.org/I4210121771"]},{"raw_affiliation_string":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA","institution_ids":["https://openalex.org/I4210115256"]}]}],"institution_assertions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5001680747","https://openalex.org/A5101954659"],"corresponding_institution_ids":["https://openalex.org/I4210121771","https://openalex.org/I4210115256","https://openalex.org/I87445476","https://openalex.org/I79576946","https://openalex.org/I4210121771","https://openalex.org/I4210115256"],"apc_list":{"value":3500,"currency":"USD","value_usd":3500,"provenance":"doaj"},"apc_paid":{"value":3500,"currency":"USD","value_usd":3500,"provenance":"doaj"},"fwci":1.197,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.72752,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":85,"max":87},"biblio":{"volume":"20","issue":"6","first_page":"1197","last_page":"1206"},"is_retracted":false,"is_paratext":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9999,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9999,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9978,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9858,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8102828},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.51956964},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4999032},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45907187},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.45750546},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40696394},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3260845},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.18266362},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14811337}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":"","qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"","qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":"","qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"","qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gpb.2021.06.003","pdf_url":null,"source":{"id":"https://openalex.org/S155547894","display_name":"Genomics Proteomics & Bioinformatics","issn_l":"1672-0229","issn":["1672-0229","2210-3244"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true},{"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10225484","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":["National Institutes of Health"],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true},{"is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.03.16.21252173","pdf_url":null,"source":{"id":"https://openalex.org/S4306400573","display_name":"medRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory"],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false},{"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35085778","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":["National Institutes of Health"],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false}],"best_oa_location":{"is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gpb.2021.06.003","pdf_url":null,"source":{"id":"https://openalex.org/S155547894","display_name":"Genomics Proteomics & Bioinformatics","issn_l":"1672-0229","issn":["1672-0229","2210-3244"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true},"sustainable_development_goals":[{"display_name":"Partnerships for the goals","score":0.46,"id":"https://metadata.un.org/sdg/17"}],"grants":[{"funder":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China","award_id":"61702406"},{"funder":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China","award_id":"31671372"},{"funder":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health","award_id":"U24AG041689"},{"funder":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health","award_id":"U54AG052427"},{"funder":"https://openalex.org/F4320335777","funder_display_name":"National Key Research and Development Program of China","award_id":"2018YFC0910400"},{"funder":"https://openalex.org/F4320335777","funder_display_name":"National Key Research and Development Program of China","award_id":"2017YFC0907500"}],"datasets":[],"versions":[],"referenced_works_count":43,"referenced_works":["https://openalex.org/W1517532080","https://openalex.org/W1592050624","https://openalex.org/W1673310716","https://openalex.org/W1854779161","https://openalex.org/W1966938977","https://openalex.org/W1975066506","https://openalex.org/W1980096475","https://openalex.org/W2007100755","https://openalex.org/W2045040686","https://openalex.org/W2045775154","https://openalex.org/W2054107874","https://openalex.org/W2068206509","https://openalex.org/W2082651070","https://openalex.org/W2096128575","https://openalex.org/W2103740237","https://openalex.org/W2107126369","https://openalex.org/W2111350087","https://openalex.org/W2113982797","https://openalex.org/W2114919588","https://openalex.org/W2119582595","https://openalex.org/W2121539425","https://openalex.org/W2128505445","https://openalex.org/W2131587128","https://openalex.org/W2146005104","https://openalex.org/W2150506261","https://openalex.org/W2170612945","https://openalex.org/W2233252933","https://openalex.org/W2235737683","https://openalex.org/W2262626337","https://openalex.org/W2504653905","https://openalex.org/W2602431927","https://openalex.org/W2614986146","https://openalex.org/W2765256181","https://openalex.org/W2782424591","https://openalex.org/W2788468983","https://openalex.org/W2792225186","https://openalex.org/W2793040027","https://openalex.org/W2796391389","https://openalex.org/W2801572061","https://openalex.org/W2885874790","https://openalex.org/W2892078430","https://openalex.org/W2942881430","https://openalex.org/W2949028980"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W4281746656","https://openalex.org/W3118014344","https://openalex.org/W2899084033","https://openalex.org/W2513883126","https://openalex.org/W2507940864","https://openalex.org/W2387464095","https://openalex.org/W2160911017","https://openalex.org/W2005336569","https://openalex.org/W1526237818"],"abstract_inverted_index":{"Abstract":[0],"We":[1,168,200],"aimed":[2],"to":[3,55,94,144,212,222],"develop":[4],"a":[5,47,112,126,170,190,196,209],"whole-genome":[6],"sequencing":[7],"(WGS)-based":[8],"copy":[9],"number":[10],"variant":[11],"(CNV)":[12],"calling":[13,42],"algorithm":[14,43],"with":[15,194],"the":[16,56,214],"potential":[17],"of":[18,39,75,83,96,102,117,140,185,192,198,216],"replacing":[19],"chromosomal":[20],"microarray":[21],"assay":[22],"(CMA)":[23],"for":[24,31,64,129,138,156,162,166],"clinical":[25],"diagnosis.":[26],"JAX-CNV":[27,72,79,203,224],"is":[28,225],"thus":[29],"developed":[30,169,177],"CNV":[32,41,172,178],"detection":[33],"from":[34,220],"WGS":[35],"data.":[36],"The":[37,68],"performance":[38],"this":[40,175],"was":[44],"evaluated":[45],"in":[46,208],"blinded":[48],"manner":[49],"on":[50,122],"31":[51,66],"samples":[52],"and":[53,164,181],"compared":[54,93],"112":[57],"CNVs":[58,85,106,130,148,188],"reported":[59],"by":[60],"clinically":[61,97],"validated":[62,98],"CMAs":[63,221],"these":[65,76],"samples.":[67],"result":[69],"showed":[70,107],"that":[71,202],"recalled":[73],"100%":[74,127,155,193],"CNVs.":[77],"Besides,":[78],"identified":[80],"an":[81,89],"average":[82],"30":[84],"per":[86],"individual,":[87],"respresenting":[88],"approximately":[90],"seven-fold":[91],"increase":[92],"calls":[95],"CMAs.":[99],"Experimental":[100],"validation":[101],"24":[103],"randomly":[104],"selected":[105],"one":[108],"false":[109,113],"positive,":[110],"i.e.,":[111],"discovery":[114],"rate":[115],"(FDR)":[116],"4.17%.":[118],"A":[119],"robustness":[120],"test":[121],"lower-coverage":[123],"data":[124],"revealed":[125],"sensitivity":[128,191],"larger":[131,149],"than":[132,150,159],"300":[133],"kb":[134],"(the":[135],"current":[136],"threshold":[137],"College":[139],"American":[141],"Pathologists)":[142],"down":[143],"10\u00d7":[145],"coverage.":[146],"For":[147],"50":[151],"kb,":[152],"sensitivities":[153],"were":[154],"coverages":[157],"deeper":[158],"20\u00d7,":[160],"97%":[161],"15\u00d7,":[163],"95%":[165],"10\u00d7.":[167],"WGS-based":[171],"pipeline,":[173],"including":[174],"newly":[176],"caller":[179],"JAX-CNV,":[180],"found":[182],"it":[183],"capable":[184],"detecting":[186],"CMA-reported":[187],"at":[189,227],"about":[195],"FDR":[197],"4%.":[199],"propose":[201],"could":[204],"be":[205],"further":[206],"examined":[207],"multi-institutional":[210],"study":[211],"justify":[213],"transition":[215],"first-tier":[217],"genetic":[218],"testing":[219],"WGS.":[223],"available":[226],"https://github.com/TheJacksonLaboratory/JAX-CNV.":[228]},"cited_by_api_url":"https://api.openalex.org/works?filter=cites:W4225472640","counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2021,"cited_by_count":1}],"updated_date":"2024-12-06T22:34:29.739056","created_date":"2022-05-05"}
