{"id":"https://openalex.org/W4366595547","doi":"https://doi.org/10.1186/s12859-023-05255-7","title":"Validation of genetic variants from NGS data using deep convolutional neural networks","display_name":"Validation of genetic variants from NGS data using deep convolutional neural networks","publication_year":2023,"publication_date":"2023-04-20","ids":{"openalex":"https://openalex.org/W4366595547","doi":"https://doi.org/10.1186/s12859-023-05255-7","pmid":"https://pubmed.ncbi.nlm.nih.gov/37081386"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-023-05255-7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-023-05255-7","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-023-05255-7","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-023-05255-7","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062130808","display_name":"Marc Vaisband","orcid":"https://orcid.org/0000-0003-4721-0315"},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]},{"id":"https://openalex.org/I27945538","display_name":"Paracelsus Medical University","ror":"https://ror.org/03z3mg085","country_code":"AT","type":"education","lineage":["https://openalex.org/I27945538"]},{"id":"https://openalex.org/I4210088403","display_name":"Orthopaedic Center","ror":"https://ror.org/004amc442","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210088403"]},{"id":"https://openalex.org/I4210121077","display_name":"Cancer Research Institute of the Slovak Academy of Sciences","ror":"https://ror.org/02v8wkr26","country_code":"SK","type":"facility","lineage":["https://openalex.org/I207624831","https://openalex.org/I4210121077"]}],"countries":["AT","DE","SK","US"],"is_corresponding":true,"raw_author_name":"Marc Vaisband","raw_affiliation_strings":["Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria. vaisband@uni-bonn.de","Life and Medical Sciences Institute, University of Bonn, Bonn, Germany. vaisband@uni-bonn.de","Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria. vaisband@uni-bonn.de","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Life and Medical Sciences Institute, University of Bonn, Bonn, Germany. vaisband@uni-bonn.de","institution_ids":["https://openalex.org/I135140700"]},{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","institution_ids":["https://openalex.org/I4210088403"]},{"raw_affiliation_string":"Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","institution_ids":["https://openalex.org/I4210121077"]},{"raw_affiliation_string":"Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036688322","display_name":"Maria Schubert","orcid":"https://orcid.org/0000-0001-5119-726X"},"institutions":[{"id":"https://openalex.org/I27945538","display_name":"Paracelsus Medical University","ror":"https://ror.org/03z3mg085","country_code":"AT","type":"education","lineage":["https://openalex.org/I27945538"]},{"id":"https://openalex.org/I4210088403","display_name":"Orthopaedic Center","ror":"https://ror.org/004amc442","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210088403"]},{"id":"https://openalex.org/I4210121077","display_name":"Cancer Research Institute of the Slovak Academy of Sciences","ror":"https://ror.org/02v8wkr26","country_code":"SK","type":"facility","lineage":["https://openalex.org/I207624831","https://openalex.org/I4210121077"]}],"countries":["AT","SK","US"],"is_corresponding":false,"raw_author_name":"Maria Schubert","raw_affiliation_strings":["Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","institution_ids":["https://openalex.org/I4210088403"]},{"raw_affiliation_string":"Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","institution_ids":["https://openalex.org/I4210121077"]},{"raw_affiliation_string":"Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039161696","display_name":"Franz Josef Gassner","orcid":"https://orcid.org/0000-0001-9894-0313"},"institutions":[{"id":"https://openalex.org/I27945538","display_name":"Paracelsus Medical University","ror":"https://ror.org/03z3mg085","country_code":"AT","type":"education","lineage":["https://openalex.org/I27945538"]},{"id":"https://openalex.org/I4210088403","display_name":"Orthopaedic Center","ror":"https://ror.org/004amc442","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210088403"]},{"id":"https://openalex.org/I4210121077","display_name":"Cancer Research Institute of the Slovak Academy of Sciences","ror":"https://ror.org/02v8wkr26","country_code":"SK","type":"facility","lineage":["https://openalex.org/I207624831","https://openalex.org/I4210121077"]}],"countries":["AT","SK","US"],"is_corresponding":false,"raw_author_name":"Franz Josef Gassner","raw_affiliation_strings":["Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","institution_ids":["https://openalex.org/I4210088403"]},{"raw_affiliation_string":"Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","institution_ids":["https://openalex.org/I4210121077"]},{"raw_affiliation_string":"Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016561809","display_name":"Roland Geisberger","orcid":"https://orcid.org/0000-0002-0131-2191"},"institutions":[{"id":"https://openalex.org/I27945538","display_name":"Paracelsus Medical University","ror":"https://ror.org/03z3mg085","country_code":"AT","type":"education","lineage":["https://openalex.org/I27945538"]},{"id":"https://openalex.org/I4210088403","display_name":"Orthopaedic Center","ror":"https://ror.org/004amc442","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210088403"]},{"id":"https://openalex.org/I4210121077","display_name":"Cancer Research Institute of the Slovak Academy of Sciences","ror":"https://ror.org/02v8wkr26","country_code":"SK","type":"facility","lineage":["https://openalex.org/I207624831","https://openalex.org/I4210121077"]}],"countries":["AT","SK","US"],"is_corresponding":false,"raw_author_name":"Roland Geisberger","raw_affiliation_strings":["Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","institution_ids":["https://openalex.org/I4210088403"]},{"raw_affiliation_string":"Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","institution_ids":["https://openalex.org/I4210121077"]},{"raw_affiliation_string":"Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039994927","display_name":"Richard Greil","orcid":"https://orcid.org/0000-0002-4462-3694"},"institutions":[{"id":"https://openalex.org/I27945538","display_name":"Paracelsus Medical University","ror":"https://ror.org/03z3mg085","country_code":"AT","type":"education","lineage":["https://openalex.org/I27945538"]},{"id":"https://openalex.org/I4210088403","display_name":"Orthopaedic Center","ror":"https://ror.org/004amc442","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210088403"]},{"id":"https://openalex.org/I4210121077","display_name":"Cancer Research Institute of the Slovak Academy of Sciences","ror":"https://ror.org/02v8wkr26","country_code":"SK","type":"facility","lineage":["https://openalex.org/I207624831","https://openalex.org/I4210121077"]}],"countries":["AT","SK","US"],"is_corresponding":false,"raw_author_name":"Richard Greil","raw_affiliation_strings":["Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","institution_ids":["https://openalex.org/I4210121077"]},{"raw_affiliation_string":"Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","institution_ids":["https://openalex.org/I4210088403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045993698","display_name":"Nadja Zaborsky","orcid":"https://orcid.org/0000-0002-9775-185X"},"institutions":[{"id":"https://openalex.org/I27945538","display_name":"Paracelsus Medical University","ror":"https://ror.org/03z3mg085","country_code":"AT","type":"education","lineage":["https://openalex.org/I27945538"]},{"id":"https://openalex.org/I4210088403","display_name":"Orthopaedic Center","ror":"https://ror.org/004amc442","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210088403"]},{"id":"https://openalex.org/I4210121077","display_name":"Cancer Research Institute of the Slovak Academy of Sciences","ror":"https://ror.org/02v8wkr26","country_code":"SK","type":"facility","lineage":["https://openalex.org/I207624831","https://openalex.org/I4210121077"]}],"countries":["AT","SK","US"],"is_corresponding":false,"raw_author_name":"Nadja Zaborsky","raw_affiliation_strings":["Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center; Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR); Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Cancer Cluster Salzburg, Paracelsus Medical University, Salzburg, Austria","institution_ids":["https://openalex.org/I27945538"]},{"raw_affiliation_string":"Department of Internal Medicine III with Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Oncologic Center","institution_ids":["https://openalex.org/I4210088403"]},{"raw_affiliation_string":"Salzburg Cancer Research Institute - Laboratory for Immunological and Molecular Cancer Research (SCRI-LIMCR)","institution_ids":["https://openalex.org/I4210121077"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063254041","display_name":"Jan Hasenauer","orcid":"https://orcid.org/0000-0002-4935-3312"},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jan Hasenauer","raw_affiliation_strings":["Life and Medical Sciences Institute, University of Bonn, Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Life and Medical Sciences Institute, University of Bonn, Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5062130808"],"corresponding_institution_ids":["https://openalex.org/I135140700","https://openalex.org/I27945538","https://openalex.org/I4210088403","https://openalex.org/I4210121077"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":0.2312,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.68426329,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":95},"biblio":{"volume":"24","issue":"1","first_page":"158","last_page":"158"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9998999834060669,"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":0.9998999834060669,"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":0.9973999857902527,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9923999905586243,"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/computer-science","display_name":"Computer science","score":0.8182063102722168},{"id":"https://openalex.org/keywords/convolutional-neural-network","display_name":"Convolutional neural network","score":0.6264694929122925},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.6144771575927734},{"id":"https://openalex.org/keywords/bottleneck","display_name":"Bottleneck","score":0.6053334474563599},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.596255898475647},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5177966356277466},{"id":"https://openalex.org/keywords/scalability","display_name":"Scalability","score":0.5154174566268921},{"id":"https://openalex.org/keywords/deep-learning","display_name":"Deep learning","score":0.47809550166130066},{"id":"https://openalex.org/keywords/artificial-neural-network","display_name":"Artificial neural network","score":0.44309958815574646},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.4162192940711975},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.09634199738502502}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.8182063102722168},{"id":"https://openalex.org/C81363708","wikidata":"https://www.wikidata.org/wiki/Q17084460","display_name":"Convolutional neural network","level":2,"score":0.6264694929122925},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.6144771575927734},{"id":"https://openalex.org/C2780513914","wikidata":"https://www.wikidata.org/wiki/Q18210350","display_name":"Bottleneck","level":2,"score":0.6053334474563599},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.596255898475647},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5177966356277466},{"id":"https://openalex.org/C48044578","wikidata":"https://www.wikidata.org/wiki/Q727490","display_name":"Scalability","level":2,"score":0.5154174566268921},{"id":"https://openalex.org/C108583219","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep learning","level":2,"score":0.47809550166130066},{"id":"https://openalex.org/C50644808","wikidata":"https://www.wikidata.org/wiki/Q192776","display_name":"Artificial neural network","level":2,"score":0.44309958815574646},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.4162192940711975},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.09634199738502502},{"id":"https://openalex.org/C149635348","wikidata":"https://www.wikidata.org/wiki/Q193040","display_name":"Embedded system","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"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":"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":"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":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"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}],"locations_count":4,"locations":[{"id":"doi:10.1186/s12859-023-05255-7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-023-05255-7","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-023-05255-7","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:37081386","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37081386","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:10116675","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10116675","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10116675/pdf/12859_2023_Article_5255.pdf","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":"BMC Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:6354773ffd1345a882925ecef572ccef","is_oa":true,"landing_page_url":"https://doaj.org/article/6354773ffd1345a882925ecef572ccef","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 24, Iss 1, Pp 1-19 (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12859-023-05255-7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-023-05255-7","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-023-05255-7","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1521016025","display_name":null,"funder_award_id":"390685813","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G2978759978","display_name":null,"funder_award_id":"20102-F2001080-FPR","funder_id":"https://openalex.org/F4320329768","funder_display_name":"Salzburger Landesregierung"},{"id":"https://openalex.org/G3119988267","display_name":null,"funder_award_id":"P32762-B","funder_id":"https://openalex.org/F4320321181","funder_display_name":"Austrian Science Fund"},{"id":"https://openalex.org/G4385901762","display_name":"Studying CLL-immune interactions","funder_award_id":"P32762","funder_id":"https://openalex.org/F4320321181","funder_display_name":"Austrian Science Fund"},{"id":"https://openalex.org/G4549622993","display_name":null,"funder_award_id":"EXC 2151","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G6354517727","display_name":null,"funder_award_id":"EXC 2047","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G7614330004","display_name":null,"funder_award_id":"EXC 2047/1 - 390685813","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G8004437433","display_name":null,"funder_award_id":"EXC 2047/1 -390685813","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G8796401741","display_name":null,"funder_award_id":"390873048","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321181","display_name":"Austrian Science Fund","ror":"https://ror.org/013tf3c58"},{"id":"https://openalex.org/F4320324900","display_name":"Rheinische Friedrich-Wilhelms-Universit\u00e4t Bonn","ror":"https://ror.org/041nas322"},{"id":"https://openalex.org/F4320329768","display_name":"Salzburger Landesregierung","ror":null}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4366595547.pdf"},"referenced_works_count":91,"referenced_works":["https://openalex.org/W1019830208","https://openalex.org/W1590169480","https://openalex.org/W1959574505","https://openalex.org/W1964807436","https://openalex.org/W1965169558","https://openalex.org/W1984068087","https://openalex.org/W1989840284","https://openalex.org/W2021341670","https://openalex.org/W2044433401","https://openalex.org/W2045553012","https://openalex.org/W2060965924","https://openalex.org/W2061680337","https://openalex.org/W2065180810","https://openalex.org/W2080659813","https://openalex.org/W2080660780","https://openalex.org/W2098548382","https://openalex.org/W2099377894","https://openalex.org/W2112005039","https://openalex.org/W2124465358","https://openalex.org/W2130626344","https://openalex.org/W2138601221","https://openalex.org/W2139194860","https://openalex.org/W2143197030","https://openalex.org/W2146290346","https://openalex.org/W2150131459","https://openalex.org/W2151794156","https://openalex.org/W2152061559","https://openalex.org/W2152241467","https://openalex.org/W2155943701","https://openalex.org/W2161815151","https://openalex.org/W2161969272","https://openalex.org/W2163605009","https://openalex.org/W2166493347","https://openalex.org/W2180375687","https://openalex.org/W2181523240","https://openalex.org/W2198606573","https://openalex.org/W2260951263","https://openalex.org/W2271840356","https://openalex.org/W2295107390","https://openalex.org/W2323851578","https://openalex.org/W2345512687","https://openalex.org/W2346062110","https://openalex.org/W2491124495","https://openalex.org/W2513185582","https://openalex.org/W2555298751","https://openalex.org/W2564735272","https://openalex.org/W2597365302","https://openalex.org/W2622826443","https://openalex.org/W2624085116","https://openalex.org/W2738126512","https://openalex.org/W2752517284","https://openalex.org/W2769420359","https://openalex.org/W2772551569","https://openalex.org/W2794000666","https://openalex.org/W2796208126","https://openalex.org/W2798772226","https://openalex.org/W2867868648","https://openalex.org/W2887469830","https://openalex.org/W2889664156","https://openalex.org/W2890999971","https://openalex.org/W2892777747","https://openalex.org/W2895452915","https://openalex.org/W2898882839","https://openalex.org/W2906768950","https://openalex.org/W2919717584","https://openalex.org/W2949462305","https://openalex.org/W2972522611","https://openalex.org/W2979942779","https://openalex.org/W2983894279","https://openalex.org/W2984098329","https://openalex.org/W2990871782","https://openalex.org/W2995210657","https://openalex.org/W2997255191","https://openalex.org/W3004480399","https://openalex.org/W3025792765","https://openalex.org/W3035965352","https://openalex.org/W3090081181","https://openalex.org/W3091976937","https://openalex.org/W3093528466","https://openalex.org/W3099878876","https://openalex.org/W3101294892","https://openalex.org/W3104087655","https://openalex.org/W3116380346","https://openalex.org/W3131770457","https://openalex.org/W3159836298","https://openalex.org/W3164091134","https://openalex.org/W3212023109","https://openalex.org/W4200163758","https://openalex.org/W4200309449","https://openalex.org/W4220853228","https://openalex.org/W4250894669"],"related_works":["https://openalex.org/W4312417841","https://openalex.org/W4321369474","https://openalex.org/W2361361118","https://openalex.org/W2731899572","https://openalex.org/W3133861977","https://openalex.org/W4200173597","https://openalex.org/W3116150086","https://openalex.org/W2087937280","https://openalex.org/W2999805992","https://openalex.org/W4380075502"],"abstract_inverted_index":{"Accurate":[0],"somatic":[1],"variant":[2],"calling":[3],"from":[4,89],"next-generation":[5],"sequencing":[6,90],"data":[7,88],"is":[8,23,29,107],"one":[9],"most":[10],"important":[11],"tasks":[12],"in":[13,34,85],"personalised":[14],"cancer":[15],"therapy.":[16],"The":[17],"sophistication":[18],"of":[19,54],"the":[20,52,96,104],"available":[21],"technologies":[22],"ever-increasing,":[24],"yet,":[25],"manual":[26],"candidate":[27],"refinement":[28],"still":[30],"a":[31,43,61,67,83],"necessary":[32],"step":[33],"state-of-the-art":[35],"processing":[36],"pipelines.":[37],"This":[38],"limits":[39],"reproducibility":[40],"and":[41,109],"introduces":[42],"bottleneck":[44],"with":[45,113],"respect":[46],"to":[47,78],"scalability.":[48],"We":[49],"demonstrate":[50],"that":[51,103],"validation":[53],"genetic":[55],"variants":[56],"can":[57,92],"be":[58,93],"improved":[59],"using":[60,72],"machine":[62],"learning":[63],"approach":[64],"resting":[65],"on":[66,111],"Convolutional":[68],"Neural":[69],"Network,":[70],"trained":[71,114],"existing":[73,79],"human":[74],"annotation.":[75],"In":[76],"contrast":[77],"approaches,":[80],"we":[81],"introduce":[82],"way":[84],"which":[86],"contextual":[87],"tracks":[91],"included":[94],"into":[95],"automated":[97],"assessment.":[98],"A":[99],"rigorous":[100],"evaluation":[101],"shows":[102],"resulting":[105],"model":[106],"robust":[108],"performs":[110],"par":[112],"researchers":[115],"following":[116],"published":[117],"standard":[118],"operating":[119],"procedure.":[120]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}