{"id":"https://openalex.org/W4403324296","doi":"https://doi.org/10.1177/14604582241290725","title":"Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis","display_name":"Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis","publication_year":2024,"publication_date":"2024-10-01","ids":{"openalex":"https://openalex.org/W4403324296","doi":"https://doi.org/10.1177/14604582241290725","pmid":"https://pubmed.ncbi.nlm.nih.gov/39394057"},"language":"en","primary_location":{"id":"doi:10.1177/14604582241290725","is_oa":true,"landing_page_url":"https://doi.org/10.1177/14604582241290725","pdf_url":null,"source":{"id":"https://openalex.org/S201800618","display_name":"Health Informatics Journal","issn_l":"1460-4582","issn":["1460-4582","1741-2811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"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":"Health Informatics Journal","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1177/14604582241290725","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109022996","display_name":"Orlinda Brahimllari","orcid":null},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Orlinda Brahimllari","raw_affiliation_strings":["Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden","MedTechLabs, BioClinicum, Karolinska University Hospital, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"MedTechLabs, BioClinicum, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067832483","display_name":"Sandra Eloranta","orcid":"https://orcid.org/0000-0001-5806-0573"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Sandra Eloranta","raw_affiliation_strings":["Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029784805","display_name":"Patrik Georgii\u2010Hemming","orcid":null},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Patrik Georgii-Hemming","raw_affiliation_strings":["Chief Medical Information Officer, Karolinska University Hospital, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Chief Medical Information Officer, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103021137","display_name":"Z. Haider","orcid":"https://orcid.org/0000-0002-0759-3932"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Zahra Haider","raw_affiliation_strings":["Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077682629","display_name":"Sabine Koch","orcid":"https://orcid.org/0000-0001-7144-8740"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Sabine Koch","raw_affiliation_strings":["Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103089480","display_name":"Jelena Krsti\u0107","orcid":"https://orcid.org/0000-0002-3423-533X"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Aleksandra Krstic","raw_affiliation_strings":["Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden","Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111323877","display_name":"Frantzeska Papadopoulou Skarp","orcid":null},"institutions":[{"id":"https://openalex.org/I161593684","display_name":"Stockholm University","ror":"https://ror.org/05f0yaq80","country_code":"SE","type":"education","lineage":["https://openalex.org/I161593684"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Frantzeska Papadopoulou Skarp","raw_affiliation_strings":["Department of Law, Stockholm University, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Law, Stockholm University, Stockholm, Sweden","institution_ids":["https://openalex.org/I161593684"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018989565","display_name":"Richard Rosenquist","orcid":"https://orcid.org/0000-0002-0211-8788"},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Richard Rosenquist","raw_affiliation_strings":["Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden","Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020784348","display_name":"Karin E. Smedby","orcid":"https://orcid.org/0000-0002-2104-3320"},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Karin E Smedby","raw_affiliation_strings":["Department of Hematology, Karolinska University Hospital, Stockholm, Sweden","Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Hematology, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011925993","display_name":"Fulya Taylan","orcid":"https://orcid.org/0000-0002-2907-0235"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Fulya Taylan","raw_affiliation_strings":["Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden","Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083590714","display_name":"Birna \u00deorvaldsd\u00f3ttir","orcid":"https://orcid.org/0000-0001-7372-9925"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Birna Thorvaldsdottir","raw_affiliation_strings":["Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108562305","display_name":"Valtteri Wirta","orcid":null},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I2800139495","display_name":"Science for Life Laboratory","ror":"https://ror.org/04ev03g22","country_code":"SE","type":"facility","lineage":["https://openalex.org/I2800139495"]},{"id":"https://openalex.org/I86987016","display_name":"KTH Royal Institute of Technology","ror":"https://ror.org/026vcq606","country_code":"SE","type":"education","lineage":["https://openalex.org/I86987016"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Valtteri Wirta","raw_affiliation_strings":["Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden","School of Engineering Sciences in Chemistry, Biotechnology and Health, Division of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden","Science for Life Laboratory, Department of Microbiology, Tumor and Cell biology, Karolinska Institutet, Stockholm, 17177, Sweden"],"affiliations":[{"raw_affiliation_string":"Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"School of Engineering Sciences in Chemistry, Biotechnology and Health, Division of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden","institution_ids":["https://openalex.org/I86987016"]},{"raw_affiliation_string":"Science for Life Laboratory, Department of Microbiology, Tumor and Cell biology, Karolinska Institutet, Stockholm, 17177, Sweden","institution_ids":["https://openalex.org/I2800139495","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008712226","display_name":"Tove W\u00e4sterlid","orcid":"https://orcid.org/0000-0002-4281-0349"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Tove W\u00e4sterlid","raw_affiliation_strings":["Department of Hematology, Karolinska University Hospital, Stockholm, Sweden","Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Hematology, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021753785","display_name":"Magnus Boman","orcid":"https://orcid.org/0000-0001-7949-1815"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]}],"countries":["SE"],"is_corresponding":true,"raw_author_name":"Magnus Boman","raw_affiliation_strings":["Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden","MedTechLabs, BioClinicum, Karolinska University Hospital, Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"MedTechLabs, BioClinicum, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":14,"corresponding_author_ids":["https://openalex.org/A5021753785"],"corresponding_institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"],"apc_list":{"value":1500,"currency":"USD","value_usd":1500},"apc_paid":{"value":1802,"currency":"EUR","value_usd":1943},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.26860537,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"30","issue":"4","first_page":"14604582241290725","last_page":"14604582241290725"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9994999766349792,"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":0.9994999766349792,"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":0.9955000281333923,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9739000201225281,"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/blueprint","display_name":"Blueprint","score":0.8868842720985413},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.7380456328392029},{"id":"https://openalex.org/keywords/massive-parallel-sequencing","display_name":"Massive parallel sequencing","score":0.7166647911071777},{"id":"https://openalex.org/keywords/massively-parallel","display_name":"Massively parallel","score":0.682434618473053},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"Precision medicine","score":0.5536337494850159},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.5420222878456116},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.5106194615364075},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.41947516798973083},{"id":"https://openalex.org/keywords/genomic-sequencing","display_name":"Genomic sequencing","score":0.4125555753707886},{"id":"https://openalex.org/keywords/clinical-decision-support-system","display_name":"Clinical decision support system","score":0.4111667573451996},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.4037245810031891},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.33537954092025757},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.33071792125701904},{"id":"https://openalex.org/keywords/decision-support-system","display_name":"Decision support system","score":0.31521493196487427},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.1328250765800476},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.11737588047981262},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.11326998472213745},{"id":"https://openalex.org/keywords/parallel-computing","display_name":"Parallel computing","score":0.10149705410003662}],"concepts":[{"id":"https://openalex.org/C155911762","wikidata":"https://www.wikidata.org/wiki/Q422321","display_name":"Blueprint","level":2,"score":0.8868842720985413},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7380456328392029},{"id":"https://openalex.org/C192800701","wikidata":"https://www.wikidata.org/wiki/Q6784807","display_name":"Massive parallel sequencing","level":4,"score":0.7166647911071777},{"id":"https://openalex.org/C190475519","wikidata":"https://www.wikidata.org/wiki/Q544384","display_name":"Massively parallel","level":2,"score":0.682434618473053},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.5536337494850159},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.5420222878456116},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.5106194615364075},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.41947516798973083},{"id":"https://openalex.org/C2994067223","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"Genomic sequencing","level":4,"score":0.4125555753707886},{"id":"https://openalex.org/C63527458","wikidata":"https://www.wikidata.org/wiki/Q5133829","display_name":"Clinical decision support system","level":3,"score":0.4111667573451996},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.4037245810031891},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.33537954092025757},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.33071792125701904},{"id":"https://openalex.org/C107327155","wikidata":"https://www.wikidata.org/wiki/Q330268","display_name":"Decision support system","level":2,"score":0.31521493196487427},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1328250765800476},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.11737588047981262},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11326998472213745},{"id":"https://openalex.org/C173608175","wikidata":"https://www.wikidata.org/wiki/Q232661","display_name":"Parallel computing","level":1,"score":0.10149705410003662},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C78519656","wikidata":"https://www.wikidata.org/wiki/Q101333","display_name":"Mechanical engineering","level":1,"score":0.0},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","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":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","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":"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":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","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":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1177/14604582241290725","is_oa":true,"landing_page_url":"https://doi.org/10.1177/14604582241290725","pdf_url":null,"source":{"id":"https://openalex.org/S201800618","display_name":"Health Informatics Journal","issn_l":"1460-4582","issn":["1460-4582","1741-2811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"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":"Health Informatics Journal","raw_type":"journal-article"},{"id":"pmid:39394057","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39394057","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":"Health informatics journal","raw_type":null}],"best_oa_location":{"id":"doi:10.1177/14604582241290725","is_oa":true,"landing_page_url":"https://doi.org/10.1177/14604582241290725","pdf_url":null,"source":{"id":"https://openalex.org/S201800618","display_name":"Health Informatics Journal","issn_l":"1460-4582","issn":["1460-4582","1741-2811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"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":"Health Informatics Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/16","display_name":"Peace, Justice and strong institutions","score":0.5899999737739563}],"awards":[{"id":"https://openalex.org/G5450548359","display_name":null,"funder_award_id":"2021-04610","funder_id":"https://openalex.org/F4320322581","funder_display_name":"Vetenskapsr\u00e5det"}],"funders":[{"id":"https://openalex.org/F4320322581","display_name":"Vetenskapsr\u00e5det","ror":"https://ror.org/03zttf063"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":69,"referenced_works":["https://openalex.org/W1541931954","https://openalex.org/W1968230414","https://openalex.org/W1986700282","https://openalex.org/W1994139728","https://openalex.org/W2022888213","https://openalex.org/W2051978340","https://openalex.org/W2136922540","https://openalex.org/W2163553106","https://openalex.org/W2566723262","https://openalex.org/W2764573087","https://openalex.org/W2788176801","https://openalex.org/W2804248426","https://openalex.org/W2810044435","https://openalex.org/W2888034354","https://openalex.org/W2891378911","https://openalex.org/W2898882839","https://openalex.org/W2900426420","https://openalex.org/W2900956052","https://openalex.org/W2905547226","https://openalex.org/W2909272199","https://openalex.org/W2925032854","https://openalex.org/W2940391028","https://openalex.org/W2947555888","https://openalex.org/W2951202605","https://openalex.org/W2953301805","https://openalex.org/W2954933826","https://openalex.org/W2972672212","https://openalex.org/W2973032421","https://openalex.org/W2983333840","https://openalex.org/W2995451711","https://openalex.org/W2995580330","https://openalex.org/W2996698847","https://openalex.org/W2998233925","https://openalex.org/W2998916805","https://openalex.org/W3012841428","https://openalex.org/W3013681994","https://openalex.org/W3082078093","https://openalex.org/W3086152929","https://openalex.org/W3092308791","https://openalex.org/W3105578484","https://openalex.org/W3113535035","https://openalex.org/W3125032632","https://openalex.org/W3132207287","https://openalex.org/W3134359100","https://openalex.org/W3136550199","https://openalex.org/W3162149025","https://openalex.org/W3185260058","https://openalex.org/W3202855377","https://openalex.org/W3208996968","https://openalex.org/W4200040828","https://openalex.org/W4200298380","https://openalex.org/W4206120034","https://openalex.org/W4210412949","https://openalex.org/W4214573195","https://openalex.org/W4221106857","https://openalex.org/W4224028562","https://openalex.org/W4226329457","https://openalex.org/W4280565666","https://openalex.org/W4283381496","https://openalex.org/W4293008345","https://openalex.org/W4296161022","https://openalex.org/W4307887190","https://openalex.org/W4309108678","https://openalex.org/W4315928526","https://openalex.org/W4317569501","https://openalex.org/W4362668377","https://openalex.org/W4366563389","https://openalex.org/W4383481194","https://openalex.org/W4387766395"],"related_works":["https://openalex.org/W2596828944","https://openalex.org/W363681194","https://openalex.org/W3132427319","https://openalex.org/W4362539194","https://openalex.org/W3040743322","https://openalex.org/W2116631246","https://openalex.org/W2803621425","https://openalex.org/W2097906027","https://openalex.org/W2130940380","https://openalex.org/W2280181232"],"abstract_inverted_index":{"Massively":[0],"parallel":[1,88],"sequencing":[2],"helps":[3],"create":[4],"new":[5],"knowledge":[6],"on":[7],"genes,":[8],"variants":[9,37,198],"and":[10,66,72,117,136,144,156,194],"their":[11],"association":[12],"with":[13,38,112],"disease":[14],"phenotype.":[15],"This":[16],"important":[17],"technological":[18],"advancement":[19],"simultaneously":[20],"makes":[21],"clinical":[22,57],"decision":[23,101],"making,":[24],"using":[25],"genomic":[26],"information":[27],"for":[28,56,62,80,86,159,168],"cancer":[29],"patients,":[30],"more":[31],"complex.":[32],"Currently,":[33],"identifying":[34],"actionable":[35],"pathogenic":[36,170],"diagnostic,":[39],"prognostic,":[40],"or":[41],"predictive":[42],"impact":[43],"requires":[44],"substantial":[45],"manual":[46],"effort.":[47],"<b>Objective:</b>":[48],"The":[49,93,125,148],"purpose":[50],"is":[51,166],"to":[52,99,179],"design":[53],"a":[54,78,81,84,174],"solution":[55,85,94],"diagnostics":[58],"of":[59,83,110,131],"lymphoma,":[60],"specifically":[61],"systematic":[63],"variant":[64,132,145],"filtering":[65,133,146],"interpretation.":[67],"<b>Methods:</b>":[68],"A":[69,107],"scoping":[70,126],"review":[71,127],"demonstrations":[73],"from":[74],"specialists":[75,113],"serve":[76],"as":[77],"basis":[79],"blueprint":[82,116,149],"massively":[87],"sequencing-based":[89],"genetic":[90],"diagnostics.":[91],"<b>Results:</b>":[92],"uses":[95],"machine":[96],"learning":[97],"methods":[98],"facilitate":[100],"making":[102],"in":[103],"the":[104,115,151,153,157,187],"diagnostic":[105],"process.":[106],"validation":[108],"round":[109],"interviews":[111],"consolidated":[114],"anchored":[118],"it":[119],"across":[120],"all":[121],"relevant":[122],"expert":[123],"disciplines.":[124],"identified":[128,181],"four":[129],"components":[130],"solutions:":[134],"algorithms":[135],"Artificial":[137],"Intelligence":[138],"(AI)":[139],"applications,":[140],"software,":[141],"bioinformatics":[142],"pipelines":[143],"strategies.":[147],"describes":[150],"input,":[152],"AI":[154],"model":[155],"interface":[158],"dynamic":[160],"browsing.":[161],"<b>Conclusion:</b>":[162],"An":[163],"AI-augmented":[164],"system":[165,175],"designed":[167],"predicting":[169],"variants.":[171],"While":[172],"such":[173],"can":[176],"be":[177],"used":[178],"classify":[180],"variants,":[182],"diagnosticians":[183],"should":[184],"still":[185],"evaluate":[186],"classification's":[188],"accuracy,":[189],"make":[190],"corrections":[191],"when":[192],"necessary,":[193],"ultimately":[195],"decide":[196],"which":[197],"are":[199],"truly":[200],"pathogenic.":[201]},"counts_by_year":[],"updated_date":"2025-12-21T01:58:51.020947","created_date":"2025-10-10T00:00:00"}