{"id":"https://openalex.org/W2122959041","doi":"https://doi.org/10.1093/bib/bbv055","title":"Evaluation of somatic copy number estimation tools for whole-exome sequencing data","display_name":"Evaluation of somatic copy number estimation tools for whole-exome sequencing data","publication_year":2015,"publication_date":"2015-07-25","ids":{"openalex":"https://openalex.org/W2122959041","doi":"https://doi.org/10.1093/bib/bbv055","mag":"2122959041","pmid":"https://pubmed.ncbi.nlm.nih.gov/26210357"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbv055","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbv055","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6283367","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018606296","display_name":"Jae\u2010Yong Nam","orcid":"https://orcid.org/0000-0001-8318-2724"},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Jae-Yong Nam","raw_affiliation_strings":["Jae-Yong Nam is a PhD student in the Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jae-Yong Nam is a PhD student in the Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019258410","display_name":"Nayoung K. D. Kim","orcid":"https://orcid.org/0000-0001-8350-6266"},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Nayoung K. D. Kim","raw_affiliation_strings":["Nayoung K. D. Kim is a postdoctoral researcher at the Samsung Genome Institute, Samsung Medical Center, Korea","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nayoung K. D. Kim is a postdoctoral researcher at the Samsung Genome Institute, Samsung Medical Center, Korea","institution_ids":["https://openalex.org/I2802194831"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103102360","display_name":"Sang Cheol Kim","orcid":"https://orcid.org/0000-0003-4389-9178"},"institutions":[{"id":"https://openalex.org/I2250650973","display_name":"Samsung (South Korea)","ror":"https://ror.org/04w3jy968","country_code":"KR","type":"company","lineage":["https://openalex.org/I2250650973"]},{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Sang Cheol Kim","raw_affiliation_strings":["Sang Cheol Kim is a principal researcher at the Samsung Genome Institute, Samsung Medical Center, Korea","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sang Cheol Kim is a principal researcher at the Samsung Genome Institute, Samsung Medical Center, Korea","institution_ids":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060488559","display_name":"Je\u2010Gun Joung","orcid":"https://orcid.org/0000-0003-2859-1036"},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Je-Gun Joung","raw_affiliation_strings":["Je-Gun Joung is a principal researcher at the Samsung Genome Institute, Samsung Medical Center, Korea","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Je-Gun Joung is a principal researcher at the Samsung Genome Institute, Samsung Medical Center, Korea","institution_ids":["https://openalex.org/I2802194831"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078729312","display_name":"Ruibin Xi","orcid":"https://orcid.org/0000-0001-7545-7361"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]},{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["CN","KR","US"],"is_corresponding":false,"raw_author_name":"Ruibin Xi","raw_affiliation_strings":["Ruibin Xi is a professor at the Center for Statistical Science, Peking University, China","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ruibin Xi is a professor at the Center for Statistical Science, Peking University, China","institution_ids":["https://openalex.org/I20231570"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102817477","display_name":"Semin Lee","orcid":"https://orcid.org/0000-0002-9015-6046"},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210104914","display_name":"National Postdoctoral Association","ror":"https://ror.org/01gsm0s82","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210104914"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Semin Lee","raw_affiliation_strings":["Semin Lee is a postdoctoral Researcher at the Center for Biomedical Informatics, Harvard Medical School, USA","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Semin Lee is a postdoctoral Researcher at the Center for Biomedical Informatics, Harvard Medical School, USA","institution_ids":["https://openalex.org/I4210104914"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022028438","display_name":"Peter J. Park","orcid":"https://orcid.org/0000-0001-9378-960X"},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210088060","display_name":"Ark Medical Center","ror":"https://ror.org/002bpyg81","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210088060"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Peter J. Park","raw_affiliation_strings":["Peter J. Park is an associate professor at the Center for Biomedical Informatics, Harvard Medical School, USA","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Peter J. Park is an associate professor at the Center for Biomedical Informatics, Harvard Medical School, USA","institution_ids":["https://openalex.org/I4210088060"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5003283147","display_name":"Woong\u2010Yang Park","orcid":"https://orcid.org/0000-0003-4234-0380"},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I4210155419","display_name":"Center for Systems Biology","ror":"https://ror.org/05r3dyn47","country_code":"US","type":"facility","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I4210155419","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Woong-Yang Park","raw_affiliation_strings":["Woong-Yang Park is a professor of the Department of Molecular Cell Biology at the School of Medicine, Sungkyunkwan University, and Director of the Samsung Genome Institute, Samsung Medical Center, Korea","Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Woong-Yang Park is a professor of the Department of Molecular Cell Biology at the School of Medicine, Sungkyunkwan University, and Director of the Samsung Genome Institute, Samsung Medical Center, Korea","institution_ids":["https://openalex.org/I2802194831"]},{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Park, Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I4210155419"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea","institution_ids":["https://openalex.org/I2802194831"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3885,"currency":"USD","value_usd":3885},"apc_paid":null,"fwci":2.3615,"has_fulltext":false,"cited_by_count":51,"citation_normalized_percentile":{"value":0.8866231,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"17","issue":"2","first_page":"185","last_page":"192"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9993000030517578,"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"}},"topics":[{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9993000030517578,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9991999864578247,"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":0.9977999925613403,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.7590395212173462},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.6043355464935303},{"id":"https://openalex.org/keywords/indel","display_name":"Indel","score":0.5940932035446167},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.5668785572052002},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5024220943450928},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.47752419114112854},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4631679952144623},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"Whole genome sequencing","score":0.4390637278556824},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4231581687927246},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.41189679503440857},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.385111540555954},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.31199997663497925},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.16883042454719543},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12562400102615356},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.12468090653419495}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.7590395212173462},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6043355464935303},{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.5940932035446167},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.5668785572052002},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5024220943450928},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.47752419114112854},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4631679952144623},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.4390637278556824},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4231581687927246},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.41189679503440857},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.385111540555954},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.31199997663497925},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.16883042454719543},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12562400102615356},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.12468090653419495}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1093/bib/bbv055","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbv055","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:26210357","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26210357","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":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in bioinformatics","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:5256477","is_oa":false,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6283367","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6283367","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6283367","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":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brief Bioinform","raw_type":"Text"},{"id":"pmh:oai:open-archive.highwire.org:bib:17/2/185","is_oa":false,"landing_page_url":"http://bib.oxfordjournals.org/cgi/content/short/17/2/185","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"},{"id":"pmh:oai:scholarworks.unist.ac.kr:201301/18870","is_oa":false,"landing_page_url":"http://bib.oxfordjournals.org/content/17/2/185.long","pdf_url":null,"source":{"id":"https://openalex.org/S4306401118","display_name":"Scholarworks@UNIST (Ulsan National Institute of Science and Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I48566637","host_organization_name":"Ulsan National Institute of Science and Technology","host_organization_lineage":["https://openalex.org/I48566637"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"ARTICLE"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:6283367","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6283367","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":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brief Bioinform","raw_type":"Text"},"sustainable_development_goals":[{"score":0.6399999856948853,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"awards":[{"id":"https://openalex.org/G1072814942","display_name":null,"funder_award_id":"R01 EY024230","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320322107","display_name":"Korea Health Industry Development Institute","ror":"https://ror.org/00fdzyk40"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":78,"referenced_works":["https://openalex.org/W1965225032","https://openalex.org/W1974174752","https://openalex.org/W2002843742","https://openalex.org/W2010991736","https://openalex.org/W2011874456","https://openalex.org/W2016661249","https://openalex.org/W2025884426","https://openalex.org/W2029996495","https://openalex.org/W2036210716","https://openalex.org/W2044823121","https://openalex.org/W2068523052","https://openalex.org/W2097360336","https://openalex.org/W2100148038","https://openalex.org/W2107126369","https://openalex.org/W2107751484","https://openalex.org/W2108234281","https://openalex.org/W2109788084","https://openalex.org/W2112706474","https://openalex.org/W2114034064","https://openalex.org/W2115437482","https://openalex.org/W2116753165","https://openalex.org/W2119180969","https://openalex.org/W2121144826","https://openalex.org/W2121743948","https://openalex.org/W2124873881","https://openalex.org/W2126547130","https://openalex.org/W2127710810","https://openalex.org/W2129005367","https://openalex.org/W2133174470","https://openalex.org/W2133257334","https://openalex.org/W2133339454","https://openalex.org/W2134151441","https://openalex.org/W2141862704","https://openalex.org/W2144759168","https://openalex.org/W2153056550","https://openalex.org/W2153065499","https://openalex.org/W2155707112","https://openalex.org/W2155943701","https://openalex.org/W2169744057","https://openalex.org/W2171798166","https://openalex.org/W6641195110","https://openalex.org/W6643820797","https://openalex.org/W6650919163","https://openalex.org/W6652885964","https://openalex.org/W6653259960","https://openalex.org/W6654520925","https://openalex.org/W6656872969","https://openalex.org/W6657994644","https://openalex.org/W6659252737","https://openalex.org/W6661644653","https://openalex.org/W6674676536","https://openalex.org/W6675006659","https://openalex.org/W6675720314","https://openalex.org/W6676124787","https://openalex.org/W6676286517","https://openalex.org/W6676415677","https://openalex.org/W6676542508","https://openalex.org/W6676652317","https://openalex.org/W6677193722","https://openalex.org/W6677396824","https://openalex.org/W6677769943","https://openalex.org/W6677817305","https://openalex.org/W6678084329","https://openalex.org/W6678322184","https://openalex.org/W6678813734","https://openalex.org/W6679339586","https://openalex.org/W6679623725","https://openalex.org/W6679735873","https://openalex.org/W6679896696","https://openalex.org/W6680004459","https://openalex.org/W6681109396","https://openalex.org/W6681195216","https://openalex.org/W6682051115","https://openalex.org/W6682311466","https://openalex.org/W6682682584","https://openalex.org/W6682773090","https://openalex.org/W6684788324","https://openalex.org/W6685055860"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2529614973","https://openalex.org/W2785750911","https://openalex.org/W2043256480","https://openalex.org/W4242893802","https://openalex.org/W2156272823","https://openalex.org/W2400191746","https://openalex.org/W2951648583","https://openalex.org/W2542213537","https://openalex.org/W2043864615"],"abstract_inverted_index":{"Whole-exome":[0],"sequencing":[1,137],"(WES)":[2],"has":[3,22],"become":[4],"a":[5,36,67,121,170],"standard":[6],"method":[7],"for":[8,232],"detecting":[9,39],"genetic":[10],"variants":[11],"in":[12,204,241],"human":[13],"diseases.":[14],"Although":[15],"the":[16,24,55,59,64,113,117,154,159,166,184,191,217,229],"primary":[17],"use":[18],"of":[19,26,38,66,175,190],"WES":[20,48,78,91,176,237],"data":[21,33,49,92,238],"been":[23],"identification":[25],"single":[27,130],"nucleotide":[28,131],"variations":[29,42],"and":[30,63,88,101,135,158,201,207,214,224,244],"indels,":[31],"these":[32,142],"also":[34],"offer":[35],"possibility":[37],"copy":[40,192],"number":[41],"(CNVs)":[43],"at":[44],"high":[45,222],"resolution.":[46],"However,":[47],"have":[50],"uneven":[51],"read":[52],"coverage":[53],"along":[54],"genome":[56],"owing":[57],"to":[58,188],"target":[60],"capture":[61],"step,":[62],"development":[65],"robust":[68,247],"WES-based":[69,155,167],"CNV":[70,80,114,123,177,205,208,234],"tool":[71],"is":[72],"challenging.":[73],"Here,":[74],"we":[75,111],"evaluate":[76],"six":[77,118],"somatic":[79,233],"detection":[81,235],"tools:":[82],"ADTEx,":[83],"CONTRA,":[84],"Control-FREEC,":[85],"EXCAVATOR,":[86],"ExomeCNV":[87],"Varscan2.":[89],"Using":[90,169],"from":[93,106,116,183,236],"50":[94,97,102],"kidney":[95],"chromophobe,":[96],"bladder":[98],"urothelial":[99],"carcinoma,":[100],"stomach":[103],"adenocarcinoma":[104],"patients":[105],"The":[107],"Cancer":[108],"Genome":[109],"Atlas,":[110],"compared":[112],"calls":[115,178],"tools":[119],"with":[120,220],"reference":[122,160,185],"set":[124],"that":[125,141,228,245],"was":[126],"identified":[127],"by":[128,181],"both":[129],"polymorphism":[132],"array":[133],"6.0":[134],"whole-genome":[136],"data.":[138],"We":[139,226],"found":[140],"algorithms":[143,231,248],"gave":[144],"highly":[145],"variable":[146],"results:":[147],"visual":[148],"inspection":[149],"reveals":[150],"significant":[151],"differences":[152,203],"between":[153],"segmentation":[156],"profiles":[157],"profile,":[161],"as":[162,164,196],"well":[163],"among":[165],"profiles.":[168],"50%":[171],"overlap":[172],"criterion,":[173],"13-77%":[174],"were":[179,194,210],"covered":[180],"CNVs":[182],"set,":[186],"up":[187],"21%":[189],"gains":[193],"called":[195],"losses":[197],"or":[198],"vice":[199],"versa,":[200],"dramatic":[202],"sizes":[206],"numbers":[209],"observed.":[211],"Overall,":[212],"ADTEx":[213],"EXCAVATOR":[215],"had":[216],"best":[218],"performance":[219,243],"relatively":[221],"precision":[223],"sensitivity.":[225],"suggest":[227],"current":[230],"are":[239,249],"limited":[240],"their":[242],"more":[246],"needed.":[250]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":11},{"year":2016,"cited_by_count":9}],"updated_date":"2026-08-26T07:47:46.906454","created_date":"2025-10-10T00:00:00"}
