{"id":"https://openalex.org/W3005768323","doi":"https://doi.org/10.1371/journal.pcbi.1007503","title":"CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer","display_name":"CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer","publication_year":2020,"publication_date":"2020-02-12","ids":{"openalex":"https://openalex.org/W3005768323","doi":"https://doi.org/10.1371/journal.pcbi.1007503","mag":"3005768323","pmid":"https://pubmed.ncbi.nlm.nih.gov/32049956"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1007503","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007503","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007503&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007503&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045994059","display_name":"Paco Derouault","orcid":"https://orcid.org/0000-0001-9961-7075"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paco Derouault","raw_affiliation_strings":["CHU Limoges, UF de Bioinformatique, Limoges France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, UF de Bioinformatique, Limoges France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018769735","display_name":"Jasmine Chauzeix","orcid":"https://orcid.org/0000-0002-8283-6295"},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I4210132523","display_name":"Contr\u00f4le de la R\u00e9ponse Immune B et Lymphoprolif\u00e9rations","ror":"https://ror.org/02zh2vx86","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I4210096427","https://openalex.org/I4210118469","https://openalex.org/I4210132523","https://openalex.org/I65806277"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jasmine Chauzeix","raw_affiliation_strings":["CHU Limoges, Service H\u00e9matologie Biologique, Limoges, France","Univ. Limoges, UMR CNRS 7276 CRIBL, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service H\u00e9matologie Biologique, Limoges, France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, UMR CNRS 7276 CRIBL, Limoges, France","institution_ids":["https://openalex.org/I4210132523","https://openalex.org/I65806277","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103248885","display_name":"David Rizzo","orcid":"https://orcid.org/0000-0002-6894-4329"},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I4210132523","display_name":"Contr\u00f4le de la R\u00e9ponse Immune B et Lymphoprolif\u00e9rations","ror":"https://ror.org/02zh2vx86","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I4210096427","https://openalex.org/I4210118469","https://openalex.org/I4210132523","https://openalex.org/I65806277"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"David Rizzo","raw_affiliation_strings":["CHU Limoges, Service H\u00e9matologie Biologique, Limoges, France","Univ. Limoges, UMR CNRS 7276 CRIBL, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service H\u00e9matologie Biologique, Limoges, France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, UMR CNRS 7276 CRIBL, Limoges, France","institution_ids":["https://openalex.org/I4210132523","https://openalex.org/I65806277","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078449146","display_name":"Federica Miressi","orcid":"https://orcid.org/0000-0002-0359-5228"},"institutions":[{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Federica Miressi","raw_affiliation_strings":["Univ. Limoges, MMNP, EA 6309, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ. Limoges, MMNP, EA 6309, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051598991","display_name":"Corinne Magdelaine","orcid":"https://orcid.org/0000-0002-2896-5037"},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Corinne Magdelaine","raw_affiliation_strings":["CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","Univ. Limoges, MMNP, EA 6309, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, MMNP, EA 6309, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008494483","display_name":"Sylvie Bourthoumieu","orcid":null},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylvie Bourthoumieu","raw_affiliation_strings":["CHU Limoges, Service de Cytog\u00e9n\u00e9tique, Limoges, France","Univ. Limoges, MMNP, EA 6309, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service de Cytog\u00e9n\u00e9tique, Limoges, France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, MMNP, EA 6309, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023155543","display_name":"Karine Durand","orcid":"https://orcid.org/0000-0002-9738-3444"},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Karine Durand","raw_affiliation_strings":["CHU Limoges, Service Anatomie Pathologie, Limoges, France","Univ. Limoges, EA CAPTur, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service Anatomie Pathologie, Limoges, France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, EA CAPTur, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089470793","display_name":"H\u00e9l\u00e8ne Dzugan","orcid":null},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"H\u00e9l\u00e8ne Dzugan","raw_affiliation_strings":["CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","Univ. Limoges, MMNP, EA 6309, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, MMNP, EA 6309, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023004938","display_name":"Jean Feuillard","orcid":"https://orcid.org/0000-0001-6223-2454"},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I4210132523","display_name":"Contr\u00f4le de la R\u00e9ponse Immune B et Lymphoprolif\u00e9rations","ror":"https://ror.org/02zh2vx86","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I4210096427","https://openalex.org/I4210118469","https://openalex.org/I4210132523","https://openalex.org/I65806277"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean Feuillard","raw_affiliation_strings":["CHU Limoges, Service H\u00e9matologie Biologique, Limoges, France","Univ. Limoges, UMR CNRS 7276 CRIBL, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service H\u00e9matologie Biologique, Limoges, France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, UMR CNRS 7276 CRIBL, Limoges, France","institution_ids":["https://openalex.org/I4210132523","https://openalex.org/I65806277","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072009869","display_name":"Franck Sturtz","orcid":"https://orcid.org/0000-0001-6428-5162"},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Franck Sturtz","raw_affiliation_strings":["CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","Univ. Limoges, MMNP, EA 6309, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"Univ. Limoges, MMNP, EA 6309, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007377103","display_name":"St\u00e9phane M\u00e9rillou","orcid":"https://orcid.org/0000-0003-2820-8076"},"institutions":[{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"St\u00e9phane M\u00e9rillou","raw_affiliation_strings":["Univ. Limoges, UMR-7252X-LIM, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ. Limoges, UMR-7252X-LIM, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045009014","display_name":"Anne\u2010Sophie Lia","orcid":"https://orcid.org/0000-0002-6509-1578"},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I65806277","display_name":"Universit\u00e9 de Limoges","ror":"https://ror.org/02cp04407","country_code":"FR","type":"education","lineage":["https://openalex.org/I65806277"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Anne-Sophie Lia","raw_affiliation_strings":["CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","CHU Limoges, UF de Bioinformatique, Limoges France","Univ. Limoges, MMNP, EA 6309, Limoges, France"],"raw_orcid":"https://orcid.org/0000-0002-6509-1578","affiliations":[{"raw_affiliation_string":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Limoges France","institution_ids":["https://openalex.org/I4210118469"]},{"raw_affiliation_string":"CHU Limoges, UF de Bioinformatique, Limoges France","institution_ids":[]},{"raw_affiliation_string":"Univ. Limoges, MMNP, EA 6309, Limoges, France","institution_ids":["https://openalex.org/I65806277"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5045009014"],"corresponding_institution_ids":["https://openalex.org/I4210118469","https://openalex.org/I65806277"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":2.0758,"has_fulltext":true,"cited_by_count":25,"citation_normalized_percentile":{"value":0.87772865,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":98},"biblio":{"volume":"16","issue":"2","first_page":"e1007503","last_page":"e1007503"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9994000196456909,"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":0.9994000196456909,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9994000196456909,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9991000294685364,"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":0.8380582332611084},{"id":"https://openalex.org/keywords/amplicon","display_name":"Amplicon","score":0.7976527214050293},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5645439624786377},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.562673807144165},{"id":"https://openalex.org/keywords/cancer","display_name":"Cancer","score":0.5511748194694519},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5357064008712769},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5080082416534424},{"id":"https://openalex.org/keywords/somatic-cell","display_name":"Somatic cell","score":0.5011403560638428},{"id":"https://openalex.org/keywords/amplicon-sequencing","display_name":"Amplicon sequencing","score":0.4927659332752228},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3621872067451477},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.28744757175445557},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.21252891421318054},{"id":"https://openalex.org/keywords/polymerase-chain-reaction","display_name":"Polymerase chain reaction","score":0.1325032114982605}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8380582332611084},{"id":"https://openalex.org/C8185291","wikidata":"https://www.wikidata.org/wiki/Q2844457","display_name":"Amplicon","level":4,"score":0.7976527214050293},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5645439624786377},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.562673807144165},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5511748194694519},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5357064008712769},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5080082416534424},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.5011403560638428},{"id":"https://openalex.org/C2993206177","wikidata":"https://www.wikidata.org/wiki/Q2844457","display_name":"Amplicon sequencing","level":4,"score":0.4927659332752228},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3621872067451477},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.28744757175445557},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21252891421318054},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.1325032114982605},{"id":"https://openalex.org/C42062724","wikidata":"https://www.wikidata.org/wiki/Q1209205","display_name":"16S ribosomal RNA","level":3,"score":0.0}],"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":"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":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D021141","descriptor_name":"Nucleic Acid Amplification Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D021141","descriptor_name":"Nucleic Acid Amplification Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D021141","descriptor_name":"Nucleic Acid Amplification Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057089","descriptor_name":"Pathology, Molecular","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057089","descriptor_name":"Pathology, Molecular","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057089","descriptor_name":"Pathology, Molecular","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pcbi.1007503","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007503","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007503&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:32049956","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32049956","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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:HAL:hal-03269253v1","is_oa":true,"landing_page_url":"https://hal.science/hal-03269253","pdf_url":"https://hal.science/hal-03269253v1/document","source":{"id":"https://openalex.org/S4406922466","display_name":"SPIRE - Sciences Po Institutional REpository","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":"PLoS Computational Biology, 2020, 16 (2), pp.e1007503. ⟨10.1371/journal.pcbi.1007503⟩","raw_type":"Journal articles"},{"id":"pmh:oai:doaj.org/article:196a64756fb242848aa22825f1024252","is_oa":true,"landing_page_url":"https://doaj.org/article/196a64756fb242848aa22825f1024252","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 16, Iss 2, p e1007503 (2020)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/11844534","is_oa":true,"landing_page_url":"https://figshare.com/articles/journal_contribution/CovCopCan_An_efficient_tool_to_detect_Copy_Number_Variation_from_amplicon_sequencing_data_in_inherited_diseases_and_cancer/11844534","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:7041855","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7041855","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1007503","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007503","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007503&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3005768323.pdf","grobid_xml":"https://content.openalex.org/works/W3005768323.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W146673805","https://openalex.org/W2011874456","https://openalex.org/W2051903196","https://openalex.org/W2133257334","https://openalex.org/W2149992227","https://openalex.org/W2167278603","https://openalex.org/W2313383114","https://openalex.org/W2318933236","https://openalex.org/W2338628863","https://openalex.org/W2539420230","https://openalex.org/W2579995731","https://openalex.org/W2788803761","https://openalex.org/W2789078984","https://openalex.org/W2790385276","https://openalex.org/W2896549783","https://openalex.org/W2909788820"],"related_works":["https://openalex.org/W2506843120","https://openalex.org/W2945285105","https://openalex.org/W4390154386","https://openalex.org/W2306179760","https://openalex.org/W4256272196","https://openalex.org/W4293598593","https://openalex.org/W2954242328","https://openalex.org/W2728043704","https://openalex.org/W4286615072","https://openalex.org/W2890961259"],"abstract_inverted_index":{"Molecular":[0],"diagnosis":[1],"is":[2],"an":[3,100],"essential":[4],"step":[5],"of":[6,12,61,71,80],"patient":[7],"care.":[8],"An":[9],"increasing":[10],"number":[11],"Copy":[13],"Number":[14],"Variations":[15],"(CNVs)":[16],"have":[17],"been":[18],"identified":[19],"that":[20,54],"are":[21,30],"involved":[22],"in":[23,63,99],"inherited":[24,64],"and":[25,58,102],"somatic":[26,69],"diseases.":[27],"However,":[28],"there":[29],"few":[31],"existing":[32],"tools":[33],"to":[34,83,95],"identify":[35,97],"them":[36],"among":[37],"amplicon":[38],"sequencing":[39],"data":[40,70],"generated":[41],"by":[42],"Next":[43],"Generation":[44],"Sequencing":[45],"(NGS).":[46],"We":[47],"present":[48],"here":[49],"a":[50,77],"new":[51],"tool,":[52],"CovCopCan,":[53],"allows":[55],"the":[56],"rapid":[57],"easy":[59],"detection":[60],"CNVs":[62,98],"diseases,":[65],"as":[66,68],"well":[67],"patients":[72],"with":[73,76],"cancer,":[74],"even":[75],"low":[78],"ratio":[79],"cancer":[81],"cells":[82],"healthy":[84],"cells.":[85],"This":[86],"tool":[87],"could":[88],"be":[89],"very":[90],"useful":[91],"for":[92],"molecular":[93],"geneticists":[94],"rapidly":[96],"interactive":[101],"user-friendly":[103],"way.":[104]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":3}],"updated_date":"2026-01-13T01:12:25.745995","created_date":"2025-10-10T00:00:00"}