{"id":"https://openalex.org/W4401822165","doi":"https://doi.org/10.3233/shti240747","title":"Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants","display_name":"Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants","publication_year":2024,"publication_date":"2024-08-22","ids":{"openalex":"https://openalex.org/W4401822165","doi":"https://doi.org/10.3233/shti240747","pmid":"https://pubmed.ncbi.nlm.nih.gov/39176534"},"language":"en","primary_location":{"id":"doi:10.3233/shti240747","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti240747","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240747","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240747","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049986775","display_name":"Luc Mottin","orcid":"https://orcid.org/0000-0002-9614-9293"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":true,"raw_author_name":"Luc Mottin","raw_affiliation_strings":["HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"],"raw_orcid":"https://orcid.org/0000-0002-9614-9293","affiliations":[{"raw_affiliation_string":"HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069421871","display_name":"Nona Naderi","orcid":"https://orcid.org/0000-0002-1272-7640"},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210113150","display_name":"Laboratoire Interdisciplinaire de Physique","ror":"https://ror.org/023n9q531","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I4210113150","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I4387152856","display_name":"Laboratoire Interdisciplinaire des Sciences du Num\u00e9rique","ror":"https://ror.org/00rd81916","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I277688954","https://openalex.org/I4387152856"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nona Naderi","raw_affiliation_strings":["Department of Computer Science, Universit\u00e9 Paris-Saclay, CNRS, Laboratoire Interdisciplinaire des Sciences du Num\u00e9rique, Orsay, France"],"raw_orcid":"https://orcid.org/0000-0002-1272-7640","affiliations":[{"raw_affiliation_string":"Department of Computer Science, Universit\u00e9 Paris-Saclay, CNRS, Laboratoire Interdisciplinaire des Sciences du Num\u00e9rique, Orsay, France","institution_ids":["https://openalex.org/I4210113150","https://openalex.org/I277688954","https://openalex.org/I1294671590","https://openalex.org/I4387152856"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076116299","display_name":"Ana\u00efs Mottaz","orcid":"https://orcid.org/0000-0003-0080-9451"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Ana\u00efs Mottaz","raw_affiliation_strings":["HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"],"raw_orcid":"https://orcid.org/0000-0003-0080-9451","affiliations":[{"raw_affiliation_string":"HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086411804","display_name":"Pierre-Andr\u00e9 Michel","orcid":"https://orcid.org/0000-0002-7023-1045"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]},{"id":"https://openalex.org/I4210127603","display_name":"Cancer Genomics Centre","ror":"https://ror.org/02y9qjz38","country_code":"NL","type":"nonprofit","lineage":["https://openalex.org/I4210127603"]}],"countries":["CH","NL"],"is_corresponding":false,"raw_author_name":"Pierre-Andr\u00e9 Michel","raw_affiliation_strings":["HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland","University of Groningen, University Medical Centre Groningen, Groningen,","Department of Genetics, Genomics Coordination Centre, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-7023-1045","affiliations":[{"raw_affiliation_string":"HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland","institution_ids":["https://openalex.org/I12708293"]},{"raw_affiliation_string":"University of Groningen, University Medical Centre Groningen, Groningen,","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]},{"raw_affiliation_string":"Department of Genetics, Genomics Coordination Centre, The Netherlands","institution_ids":["https://openalex.org/I4210127603"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091921799","display_name":"Gerieke Been","orcid":"https://orcid.org/0009-0002-6667-5951"},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Gerieke Been","raw_affiliation_strings":["University of Groningen, University Medical Centre Groningen, Groningen, Department of Genetics, Genomics Coordination Centre, The Netherlands"],"raw_orcid":"https://orcid.org/0009-0002-6667-5951","affiliations":[{"raw_affiliation_string":"University of Groningen, University Medical Centre Groningen, Groningen, Department of Genetics, Genomics Coordination Centre, The Netherlands","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076310194","display_name":"Lennart Johansson","orcid":"https://orcid.org/0000-0002-4914-3737"},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Lennart Johansson","raw_affiliation_strings":["University of Groningen, University Medical Centre Groningen, Groningen, Department of Genetics, Genomics Coordination Centre, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-4914-3737","affiliations":[{"raw_affiliation_string":"University of Groningen, University Medical Centre Groningen, Groningen, Department of Genetics, Genomics Coordination Centre, The Netherlands","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052368642","display_name":"Morris A. Swertz","orcid":"https://orcid.org/0000-0002-0979-3401"},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Morris Swertz","raw_affiliation_strings":["University of Groningen, University Medical Centre Groningen, Groningen, Department of Genetics, Genomics Coordination Centre, The Netherlands","University of Groningen, University Medical Centre Groningen, Groningen,"],"raw_orcid":"https://orcid.org/0000-0002-0979-3401","affiliations":[{"raw_affiliation_string":"University of Groningen, University Medical Centre Groningen, Groningen, Department of Genetics, Genomics Coordination Centre, The Netherlands","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]},{"raw_affiliation_string":"University of Groningen, University Medical Centre Groningen, Groningen,","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107426757","display_name":"Andrew Stubbs","orcid":"https://orcid.org/0000-0001-9817-9982"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andrew Stubbs","raw_affiliation_strings":["Department of Pathology and Clinical Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0001-9817-9982","affiliations":[{"raw_affiliation_string":"Department of Pathology and Clinical Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017034341","display_name":"Emilie Pasche","orcid":"https://orcid.org/0000-0002-9118-5762"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Emilie Pasche","raw_affiliation_strings":["HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"],"raw_orcid":"https://orcid.org/0000-0002-9118-5762","affiliations":[{"raw_affiliation_string":"HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091440467","display_name":"Julien Gobeill","orcid":"https://orcid.org/0000-0001-9809-7741"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Julien Gobeill","raw_affiliation_strings":["HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"],"raw_orcid":"https://orcid.org/0000-0001-9809-7741","affiliations":[{"raw_affiliation_string":"HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042384742","display_name":"Patrick Ruch","orcid":"https://orcid.org/0000-0002-3374-2962"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Patrick Ruch","raw_affiliation_strings":["HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"],"raw_orcid":"https://orcid.org/0000-0002-3374-2962","affiliations":[{"raw_affiliation_string":"HES-SO/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5049986775"],"corresponding_institution_ids":["https://openalex.org/I12708293","https://openalex.org/I4210088449"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.40464135,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"316","issue":null,"first_page":"1684","last_page":"1688"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9995999932289124,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9995999932289124,"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":0.9944000244140625,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9898999929428101,"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/pathogenicity","display_name":"Pathogenicity","score":0.811596155166626},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.5976762175559998},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"Genetic variants","score":0.5038501620292664},{"id":"https://openalex.org/keywords/sequence","display_name":"Sequence (biology)","score":0.4667311906814575},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.463853120803833},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"Precision medicine","score":0.4462599754333496},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4307671785354614},{"id":"https://openalex.org/keywords/scale-invariant-feature-transform","display_name":"Scale-invariant feature transform","score":0.427334189414978},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.41490834951400757},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.3313005864620209},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.32663336396217346},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2835242748260498},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2481473684310913},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12137579917907715},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.12121418118476868},{"id":"https://openalex.org/keywords/feature-extraction","display_name":"Feature extraction","score":0.10921308398246765}],"concepts":[{"id":"https://openalex.org/C64502627","wikidata":"https://www.wikidata.org/wiki/Q170065","display_name":"Pathogenicity","level":2,"score":0.811596155166626},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.5976762175559998},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.5038501620292664},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.4667311906814575},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.463853120803833},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.4462599754333496},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4307671785354614},{"id":"https://openalex.org/C61265191","wikidata":"https://www.wikidata.org/wiki/Q767770","display_name":"Scale-invariant feature transform","level":3,"score":0.427334189414978},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.41490834951400757},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.3313005864620209},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.32663336396217346},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2835242748260498},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2481473684310913},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12137579917907715},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.12121418118476868},{"id":"https://openalex.org/C52622490","wikidata":"https://www.wikidata.org/wiki/Q1026626","display_name":"Feature extraction","level":2,"score":0.10921308398246765},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0},{"id":"https://openalex.org/C89423630","wikidata":"https://www.wikidata.org/wiki/Q7193","display_name":"Microbiology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","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":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","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":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.3233/shti240747","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti240747","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240747","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},{"id":"pmid:39176534","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39176534","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":"Studies in health technology and informatics","raw_type":null},{"id":"pmh:oai:pure.eur.nl:openaire/4c874377-cbd2-4828-bc2b-8e9671ff4fc1","is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/4c874377-cbd2-4828-bc2b-8e9671ff4fc1","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mottin, L, Naderi, N, Mottaz, A, Michel, P A, Been, G, Johansson, L, Swertz, M, Stubbs, A, Pasche, E, Gobeill, J & Ruch, P 2024, 'Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants', Studies In Health Technology And Informatics, vol. 316, pp. 1684-1688. https://doi.org/10.3233/SHTI240747","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:HAL:hal-04682928v1","is_oa":false,"landing_page_url":"https://hal.science/hal-04682928","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"34th Medical Informatics Europe Conference, Aug 2024, Ath\u00e8nes, Greece. &#x27E8;10.3233/SHTI240747&#x27E9;","raw_type":"Conference papers"},{"id":"pmh:oai:hesso.tind.io:14899","is_oa":false,"landing_page_url":"http://arodes.hes-so.ch/record/14899","pdf_url":null,"source":{"id":"https://openalex.org/S4306402432","display_name":"ArODES (HES-SO (https://www.hes-so.ch/))","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210088449","host_organization_name":"HES-SO Gen\u00e8ve","host_organization_lineage":["https://openalex.org/I4210088449"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://arodes.hes-so.ch/record/14899","raw_type":"Text"},{"id":"pmh:oai:pure.rug.nl:openaire/012005c6-f4b2-47c2-adde-e6f1e83175c4","is_oa":true,"landing_page_url":"https://research.rug.nl/en/publications/012005c6-f4b2-47c2-adde-e6f1e83175c4","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mottin, L, Naderi, N, Mottaz, A, Michel, P-A, Been, G, Johansson, L, Swertz, M, Stubbs, A, Pasche, E, Gobeill, J & Ruch, P 2024, 'Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants', Studies in health technology and informatics, vol. 316, pp. 1684-1688. https://doi.org/10.3233/SHTI240747","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:pure.rug.nl:openaire_cris_publications/012005c6-f4b2-47c2-adde-e6f1e83175c4","is_oa":true,"landing_page_url":"https://hdl.handle.net/11370/012005c6-f4b2-47c2-adde-e6f1e83175c4","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mottin, L, Naderi, N, Mottaz, A, Michel, P-A, Been, G, Johansson, L, Swertz, M, Stubbs, A, Pasche, E, Gobeill, J & Ruch, P 2024, 'Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants', Studies in health technology and informatics, vol. 316, pp. 1684-1688. https://doi.org/10.3233/SHTI240747","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:pure.rug.nl:publications/012005c6-f4b2-47c2-adde-e6f1e83175c4","is_oa":false,"landing_page_url":"https://research.rug.nl/files/1109565020/SHTI-316-SHTI240747_2_.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mottin, L, Naderi, N, Mottaz, A, Michel, P-A, Been, G, Johansson, L, Swertz, M, Stubbs, A, Pasche, E, Gobeill, J & Ruch, P 2024, 'Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants', Studies in health technology and informatics, vol. 316, pp. 1684-1688. https://doi.org/10.3233/SHTI240747","raw_type":"info:eu-repo/semantics/publishedVersion"}],"best_oa_location":{"id":"doi:10.3233/shti240747","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti240747","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240747","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/16","score":0.7599999904632568,"display_name":"Peace, Justice and strong institutions"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4401822165.pdf"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W1564417183","https://openalex.org/W2059145105","https://openalex.org/W2151529283","https://openalex.org/W2164004777","https://openalex.org/W2190851664","https://openalex.org/W2571852295","https://openalex.org/W3023596762","https://openalex.org/W3036334251","https://openalex.org/W3080696152","https://openalex.org/W3081409951","https://openalex.org/W4220821700","https://openalex.org/W4361974367","https://openalex.org/W4390774932"],"related_works":["https://openalex.org/W3034955165","https://openalex.org/W2094920358","https://openalex.org/W2041448692","https://openalex.org/W2247121321","https://openalex.org/W2391926582","https://openalex.org/W2087391438","https://openalex.org/W1966831329","https://openalex.org/W2316074893","https://openalex.org/W2020188645","https://openalex.org/W2739923608"],"abstract_inverted_index":{"Assessing":[0],"the":[1,17,20,43,68,74,80],"pathogenicity":[2,84],"of":[3,10,22,32,45,76],"genetic":[4,23,77],"variants":[5,24,52,78],"is":[6,53],"a":[7],"critical":[8,54],"aspect":[9],"genomic":[11],"medicine":[12],"and":[13,25,37,59,82,93],"precision":[14],"healthcare.":[15],"Over":[16],"last":[18],"decades,":[19],"identification":[21],"their":[26,83],"characterization":[27,75],"has":[28],"become":[29],"simpler":[30],"(advent":[31],"high-throughput":[33],"sequencing":[34],"technologies,":[35],"analysis,":[36],"visualization":[38],"support":[39],"tools,":[40],"etc.).":[41],"However,":[42],"quality":[44],"assessments":[46],"to":[47,55],"distinguish":[48],"benign":[49],"from":[50],"pathogenic":[51],"inform":[56],"clinical":[57],"decision-making":[58],"improve":[60],"patient":[61],"outcomes.":[62],"In":[63],"this":[64],"article,":[65],"we":[66],"investigate":[67],"relationships":[69],"using":[70],"correlation":[71],"tests":[72],"between":[73],"in":[79],"literature":[81],"scores":[85],"computed":[86],"by":[87],"two":[88],"state-of-the-art":[89],"assessment":[90],"tools":[91],"(SIFT":[92],"PolyPhen-2).":[94]},"counts_by_year":[],"updated_date":"2026-06-01T08:46:32.239190","created_date":"2025-10-10T00:00:00"}
