{"id":"https://openalex.org/W2121812297","doi":"https://doi.org/10.1093/bioinformatics/btu363","title":"PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data","display_name":"PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data","publication_year":2014,"publication_date":"2014-05-29","ids":{"openalex":"https://openalex.org/W2121812297","doi":"https://doi.org/10.1093/bioinformatics/btu363","mag":"2121812297","pmid":"https://pubmed.ncbi.nlm.nih.gov/24876377"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btu363","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu363","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/18/2678/16920746/btu363.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/30/18/2678/16920746/btu363.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100337669","display_name":"Chen Wang","orcid":"https://orcid.org/0000-0003-2638-3081"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Chen Wang","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086665939","display_name":"Jared M. Evans","orcid":null},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jared M. Evans","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053182366","display_name":"Aditya Bhagwate","orcid":"https://orcid.org/0000-0003-0192-9594"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Aditya V. Bhagwate","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068134362","display_name":"Naresh Prodduturi","orcid":null},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Naresh Prodduturi","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016663287","display_name":"Vivekananda Sarangi","orcid":"https://orcid.org/0000-0002-3070-8582"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vivekananda Sarangi","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085049807","display_name":"Mridu Middha","orcid":"https://orcid.org/0000-0002-2857-7149"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mridu Middha","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007577734","display_name":"Hugues Sicotte","orcid":"https://orcid.org/0000-0002-0304-8515"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hugues Sicotte","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010174341","display_name":"Peter T. Vedell","orcid":"https://orcid.org/0000-0002-6503-7619"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter T. Vedell","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085507659","display_name":"Steven N. Hart","orcid":"https://orcid.org/0000-0001-7714-2734"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven N. Hart","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012462973","display_name":"Gavin R. Oliver","orcid":"https://orcid.org/0000-0002-9948-3799"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gavin R. Oliver","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071782757","display_name":"Jean\u2010Pierre Kocher","orcid":"https://orcid.org/0000-0002-0260-6773"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jean-Pierre A. Kocher","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059417970","display_name":"Matthew J. Maurer","orcid":"https://orcid.org/0000-0002-1867-0526"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew J. Maurer","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031537463","display_name":"Anne J. Novak","orcid":"https://orcid.org/0000-0002-7904-1651"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anne J. Novak","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067100969","display_name":"Susan L. Slager","orcid":"https://orcid.org/0000-0002-5173-4712"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Susan L. Slager","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076621021","display_name":"James R. Cerhan","orcid":"https://orcid.org/0000-0002-7482-178X"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James R. Cerhan","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022178171","display_name":"Yan W. Asmann","orcid":"https://orcid.org/0000-0002-8896-2647"},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yan W. Asmann","raw_affiliation_strings":["1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, 2 Division of Epidemiology, Department of Health Sciences Research, 3 Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and 4 Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I4210146710"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":16,"corresponding_author_ids":["https://openalex.org/A5100337669"],"corresponding_institution_ids":["https://openalex.org/I4210146710"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":4.438,"has_fulltext":true,"cited_by_count":54,"citation_normalized_percentile":{"value":0.94706082,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"30","issue":"18","first_page":"2678","last_page":"2680"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"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"}},"topics":[{"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9987999796867371,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9923999905586243,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.7015673518180847},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6451218724250793},{"id":"https://openalex.org/keywords/perl","display_name":"Perl","score":0.6288965344429016},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5674527883529663},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.5381902456283569},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.5292914509773254},{"id":"https://openalex.org/keywords/automatic-summarization","display_name":"Automatic summarization","score":0.43586915731430054},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3697110116481781},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.35215914249420166},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2640191316604614},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.2431410253047943},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2410888671875},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.20830219984054565},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.201457679271698},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1494738757610321},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.14222848415374756},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.12158659100532532}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.7015673518180847},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6451218724250793},{"id":"https://openalex.org/C2777002779","wikidata":"https://www.wikidata.org/wiki/Q42478","display_name":"Perl","level":2,"score":0.6288965344429016},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5674527883529663},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5381902456283569},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.5292914509773254},{"id":"https://openalex.org/C170858558","wikidata":"https://www.wikidata.org/wiki/Q1394144","display_name":"Automatic summarization","level":2,"score":0.43586915731430054},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3697110116481781},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.35215914249420166},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2640191316604614},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2431410253047943},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2410888671875},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.20830219984054565},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.201457679271698},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1494738757610321},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.14222848415374756},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.12158659100532532}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","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":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","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":"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":3,"locations":[{"id":"doi:10.1093/bioinformatics/btu363","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu363","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/18/2678/16920746/btu363.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:24876377","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24876377","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:europepmc.org:3127141","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4155258","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":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btu363","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu363","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/18/2678/16920746/btu363.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1256888918","display_name":null,"funder_award_id":"P50 CA97274","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G1365573200","display_name":null,"funder_award_id":"CA97274","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6153228141","display_name":null,"funder_award_id":"P50 CA9727","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320314070","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2121812297.pdf","grobid_xml":"https://content.openalex.org/works/W2121812297.grobid-xml"},"referenced_works_count":9,"referenced_works":["https://openalex.org/W2034979835","https://openalex.org/W2100148038","https://openalex.org/W2102619694","https://openalex.org/W2106924416","https://openalex.org/W2108234281","https://openalex.org/W2133174470","https://openalex.org/W2144759168","https://openalex.org/W2155943701","https://openalex.org/W2158102062"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W4242893802","https://openalex.org/W2400191746","https://openalex.org/W2542213537","https://openalex.org/W1983406990","https://openalex.org/W2935449043","https://openalex.org/W2094815267","https://openalex.org/W2484239316","https://openalex.org/W3024198590"],"abstract_inverted_index":{"The":[0],"software":[1],"for":[2],"PatternCNV":[3],"is":[4],"implemented":[5],"using":[6],"Perl":[7],"and":[8,10,20,27],"R,":[9],"can":[11],"be":[12],"used":[13],"in":[14],"Mac":[15],"or":[16],"Linux":[17],"environments.":[18],"Software":[19],"user":[21],"manual":[22],"are":[23],"available":[24],"at":[25,30],"http://bioinformaticstools.mayo.edu/research/patterncnv/,":[26],"R":[28],"package":[29],"https://github.com/topsoil/patternCNV/.":[31]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":6}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}
