{"id":"https://openalex.org/W4416421795","doi":"https://doi.org/10.1093/bib/bbaf612","title":"Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce","display_name":"Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce","publication_year":2025,"publication_date":"2025-11-01","ids":{"openalex":"https://openalex.org/W4416421795","doi":"https://doi.org/10.1093/bib/bbaf612","pmid":"https://pubmed.ncbi.nlm.nih.gov/41263938"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbaf612","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaf612","pdf_url":"https://academic.oup.com/bib/article-pdf/26/6/bbaf612/65408465/bbaf612.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/bib/article-pdf/26/6/bbaf612/65408465/bbaf612.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021780984","display_name":"Justine Labory","orcid":null},"institutions":[{"id":"https://openalex.org/I4210119200","display_name":"Institut de Recherche sur le Cancer et le Vieillissement de Nice","ror":"https://ror.org/01td3kv81","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I201841394","https://openalex.org/I4210096427","https://openalex.org/I4210119200"]},{"id":"https://openalex.org/I4210153141","display_name":"Institut Sophia Agrobiotech","ror":"https://ror.org/04vj6zn89","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I201841394","https://openalex.org/I4210088668","https://openalex.org/I4210096427","https://openalex.org/I4210153141"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Justine Labory","raw_affiliation_strings":["INRAE, Universit\u00e9 C\u00f4te d\u2019Azur CNRS, Institut Sophia Agrobiotech , 400 route des chappes, BP 167 06903 Sophia Antipolis Cedex ,","Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,"],"affiliations":[{"raw_affiliation_string":"INRAE, Universit\u00e9 C\u00f4te d\u2019Azur CNRS, Institut Sophia Agrobiotech , 400 route des chappes, BP 167 06903 Sophia Antipolis Cedex ,","institution_ids":["https://openalex.org/I4210153141"]},{"raw_affiliation_string":"Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,","institution_ids":["https://openalex.org/I4210119200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114414813","display_name":"Youssef Boulaimen","orcid":null},"institutions":[{"id":"https://openalex.org/I4210117840","display_name":"Institut de Biologie Valrose","ror":"https://ror.org/03bnma344","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I201841394","https://openalex.org/I4210096427","https://openalex.org/I4210117840"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Youssef Boulaimen","raw_affiliation_strings":["House of modeling, simulations and interactions, Universit\u00e9 C\u00f4te d\u2019Azur , Parc Valrose - 28, avenue Valrose Nice Cedex 2 06108 ,"],"affiliations":[{"raw_affiliation_string":"House of modeling, simulations and interactions, Universit\u00e9 C\u00f4te d\u2019Azur , Parc Valrose - 28, avenue Valrose Nice Cedex 2 06108 ,","institution_ids":["https://openalex.org/I4210117840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109504748","display_name":"Jasmine Singh","orcid":null},"institutions":[{"id":"https://openalex.org/I4210117840","display_name":"Institut de Biologie Valrose","ror":"https://ror.org/03bnma344","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I201841394","https://openalex.org/I4210096427","https://openalex.org/I4210117840"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jasmine Singh","raw_affiliation_strings":["House of modeling, simulations and interactions, Universit\u00e9 C\u00f4te d\u2019Azur , Parc Valrose - 28, avenue Valrose Nice Cedex 2 06108 ,"],"affiliations":[{"raw_affiliation_string":"House of modeling, simulations and interactions, Universit\u00e9 C\u00f4te d\u2019Azur , Parc Valrose - 28, avenue Valrose Nice Cedex 2 06108 ,","institution_ids":["https://openalex.org/I4210117840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059000804","display_name":"Samira Ait\u2010El\u2010Mkadem Saadi","orcid":"https://orcid.org/0000-0001-7204-7826"},"institutions":[{"id":"https://openalex.org/I3018988418","display_name":"Centre Hospitalier Universitaire de Nice","ror":"https://ror.org/05qsjq305","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018988418"]},{"id":"https://openalex.org/I4210119200","display_name":"Institut de Recherche sur le Cancer et le Vieillissement de Nice","ror":"https://ror.org/01td3kv81","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I201841394","https://openalex.org/I4210096427","https://openalex.org/I4210119200"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Samira Ait-El-Mkadem Saadi","raw_affiliation_strings":["Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,"],"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","institution_ids":["https://openalex.org/I3018988418"]},{"raw_affiliation_string":"Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,","institution_ids":["https://openalex.org/I4210119200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003491551","display_name":"V\u00e9ronique Paquis\u2010Flucklinger","orcid":null},"institutions":[{"id":"https://openalex.org/I3018988418","display_name":"Centre Hospitalier Universitaire de Nice","ror":"https://ror.org/05qsjq305","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018988418"]},{"id":"https://openalex.org/I4210119200","display_name":"Institut de Recherche sur le Cancer et le Vieillissement de Nice","ror":"https://ror.org/01td3kv81","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I201841394","https://openalex.org/I4210096427","https://openalex.org/I4210119200"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"V\u00e9ronique Paquis-Flucklinger","raw_affiliation_strings":["Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,"],"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","institution_ids":["https://openalex.org/I3018988418"]},{"raw_affiliation_string":"Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,","institution_ids":["https://openalex.org/I4210119200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088299660","display_name":"Sylvie Bannwarth","orcid":"https://orcid.org/0000-0003-3960-8374"},"institutions":[{"id":"https://openalex.org/I3018988418","display_name":"Centre Hospitalier Universitaire de Nice","ror":"https://ror.org/05qsjq305","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018988418"]},{"id":"https://openalex.org/I4210119200","display_name":"Institut de Recherche sur le Cancer et le Vieillissement de Nice","ror":"https://ror.org/01td3kv81","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I201841394","https://openalex.org/I4210096427","https://openalex.org/I4210119200"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylvie Bannwarth","raw_affiliation_strings":["Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,"],"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","institution_ids":["https://openalex.org/I3018988418"]},{"raw_affiliation_string":"Universit\u00e9 C\u00f4te d\u2019Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging Nice (IRCAN) , 28, Ave de Valombrose, 06107 Nice Cedex 02 ,","institution_ids":["https://openalex.org/I4210119200"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046061566","display_name":"Silvia Bottini","orcid":"https://orcid.org/0000-0002-0605-4646"},"institutions":[{"id":"https://openalex.org/I4210153141","display_name":"Institut Sophia Agrobiotech","ror":"https://ror.org/04vj6zn89","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I201841394","https://openalex.org/I4210088668","https://openalex.org/I4210096427","https://openalex.org/I4210153141"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Silvia Bottini","raw_affiliation_strings":["INRAE, Universit\u00e9 C\u00f4te d\u2019Azur CNRS, Institut Sophia Agrobiotech , 400 route des chappes, BP 167 06903 Sophia Antipolis Cedex ,"],"affiliations":[{"raw_affiliation_string":"INRAE, Universit\u00e9 C\u00f4te d\u2019Azur CNRS, Institut Sophia Agrobiotech , 400 route des chappes, BP 167 06903 Sophia Antipolis Cedex ,","institution_ids":["https://openalex.org/I4210153141"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5021780984"],"corresponding_institution_ids":["https://openalex.org/I4210119200","https://openalex.org/I4210153141"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":{"value":4011,"currency":"USD","value_usd":4011},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.37793809,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"26","issue":"6","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6432999968528748,"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":0.6432999968528748,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.21559999883174896,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.054999999701976776,"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/autoencoder","display_name":"Autoencoder","score":0.6607000231742859},{"id":"https://openalex.org/keywords/viola","display_name":"Viola","score":0.5342000126838684},{"id":"https://openalex.org/keywords/prioritization","display_name":"Prioritization","score":0.4864000082015991},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"Genetic variants","score":0.4140999913215637},{"id":"https://openalex.org/keywords/outlier","display_name":"Outlier","score":0.4007999897003174},{"id":"https://openalex.org/keywords/pipeline","display_name":"Pipeline (software)","score":0.3668999969959259},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.32919999957084656}],"concepts":[{"id":"https://openalex.org/C101738243","wikidata":"https://www.wikidata.org/wiki/Q786435","display_name":"Autoencoder","level":3,"score":0.6607000231742859},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.59170001745224},{"id":"https://openalex.org/C68615497","wikidata":"https://www.wikidata.org/wiki/Q80284","display_name":"Viola","level":3,"score":0.5342000126838684},{"id":"https://openalex.org/C2777615720","wikidata":"https://www.wikidata.org/wiki/Q11888847","display_name":"Prioritization","level":2,"score":0.4864000082015991},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46639999747276306},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.4359999895095825},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.4140999913215637},{"id":"https://openalex.org/C79337645","wikidata":"https://www.wikidata.org/wiki/Q779824","display_name":"Outlier","level":2,"score":0.4007999897003174},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.390500009059906},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.3668999969959259},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33309999108314514},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.32919999957084656},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.32350000739097595},{"id":"https://openalex.org/C164226766","wikidata":"https://www.wikidata.org/wiki/Q7293202","display_name":"Rank (graph theory)","level":2,"score":0.31769999861717224},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3125},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.3010999858379364},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.29409998655319214},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2912999987602234},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.2883000075817108},{"id":"https://openalex.org/C64502627","wikidata":"https://www.wikidata.org/wiki/Q170065","display_name":"Pathogenicity","level":2,"score":0.2624000012874603},{"id":"https://openalex.org/C2778572836","wikidata":"https://www.wikidata.org/wiki/Q380933","display_name":"Space (punctuation)","level":2,"score":0.2531999945640564}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","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":"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":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/bib/bbaf612","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaf612","pdf_url":"https://academic.oup.com/bib/article-pdf/26/6/bbaf612/65408465/bbaf612.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:41263938","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41263938","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":"Briefings in bioinformatics","raw_type":null},{"id":"pmh:oai:HAL:hal-05469040v1","is_oa":true,"landing_page_url":"https://hal.science/hal-05469040","pdf_url":null,"source":{"id":"https://openalex.org/S4406922466","display_name":"SPIRE - Sciences Po Institutional REpository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Briefings in Bioinformatics, 2025, 26 (6), pp.bbaf612. ⟨10.1093/bib/bbaf612⟩","raw_type":"Journal articles"},{"id":"pmh:oai:europepmc.org:11439828","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12632193","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bib/bbaf612","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaf612","pdf_url":"https://academic.oup.com/bib/article-pdf/26/6/bbaf612/65408465/bbaf612.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G5348246107","display_name":null,"funder_award_id":"ANR-15-IDEX-0","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G5348977864","display_name":null,"funder_award_id":"ANR-15-IDEX-01","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G6375695715","display_name":null,"funder_award_id":"ANR 21-PMRB-0006","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G7166692799","display_name":null,"funder_award_id":"ANR-15-I","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G7996427589","display_name":null,"funder_award_id":"ANR-15_IDEX-01","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G8747369397","display_name":null,"funder_award_id":"NR-15-IDEX-01","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G8800819381","display_name":null,"funder_award_id":"-15-IDEX-01","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"}],"funders":[{"id":"https://openalex.org/F4320315367","display_name":"Fondation Maladies Rares","ror":"https://ror.org/03jpxze54"},{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4416421795.pdf","grobid_xml":"https://content.openalex.org/works/W4416421795.grobid-xml"},"referenced_works_count":60,"referenced_works":["https://openalex.org/W1533942137","https://openalex.org/W1546528060","https://openalex.org/W1926851645","https://openalex.org/W1966327575","https://openalex.org/W1980589014","https://openalex.org/W1996118086","https://openalex.org/W1996330065","https://openalex.org/W1996641286","https://openalex.org/W2040244476","https://openalex.org/W2051978340","https://openalex.org/W2059145105","https://openalex.org/W2089468765","https://openalex.org/W2104549677","https://openalex.org/W2119412782","https://openalex.org/W2126751256","https://openalex.org/W2127006085","https://openalex.org/W2145191876","https://openalex.org/W2160995259","https://openalex.org/W2164004777","https://openalex.org/W2246559112","https://openalex.org/W2272951769","https://openalex.org/W2417663346","https://openalex.org/W2474747771","https://openalex.org/W2521967673","https://openalex.org/W2524041289","https://openalex.org/W2751659465","https://openalex.org/W2774962890","https://openalex.org/W2781534540","https://openalex.org/W2795456082","https://openalex.org/W2887949697","https://openalex.org/W2896597270","https://openalex.org/W2911737122","https://openalex.org/W2912322635","https://openalex.org/W2918497364","https://openalex.org/W2950545834","https://openalex.org/W2952128461","https://openalex.org/W2981079084","https://openalex.org/W3017128939","https://openalex.org/W3018059184","https://openalex.org/W3027582835","https://openalex.org/W3027649992","https://openalex.org/W3045910546","https://openalex.org/W3047173169","https://openalex.org/W3106539179","https://openalex.org/W3126160703","https://openalex.org/W4205704802","https://openalex.org/W4206627019","https://openalex.org/W4213097893","https://openalex.org/W4224997429","https://openalex.org/W4280618449","https://openalex.org/W4282001849","https://openalex.org/W4289794327","https://openalex.org/W4294354883","https://openalex.org/W4307974897","https://openalex.org/W4378516903","https://openalex.org/W4388616071","https://openalex.org/W4388622514","https://openalex.org/W4389367121","https://openalex.org/W4405231264","https://openalex.org/W4405511908"],"related_works":[],"abstract_inverted_index":{"Interpreting":[0],"variants":[1,133],"from":[2],"whole-exome":[3],"sequencing":[4],"remains":[5],"a":[6,30,36,43,51,146],"major":[7],"challenge,":[8],"particularly":[9],"for":[10,38,149],"heterogeneous":[11],"disorders":[12],"such":[13],"as":[14],"mitochondrial":[15],"diseases":[16],"(MDs).":[17],"To":[18],"address":[19],"this,":[20],"we":[21],"have":[22],"developed":[23],"Variant":[24],"prIoritizatiOn":[25],"using":[26,138],"Latent":[27],"spAce":[28],"(VIOLA),":[29],"pipeline":[31],"designed":[32],"to":[33,46,59,118,153],"help":[34],"find":[35],"diagnosis":[37],"complex":[39],"cases.":[40],"VIOLA":[41,76,93,107,123,144],"uses":[42],"variational":[44],"autoencoder":[45],"embed":[47],"functional":[48],"annotations":[49],"into":[50],"low-dimensional":[52],"space,":[53],"followed":[54],"by":[55,128],"DBSCAN-based":[56],"outlier":[57],"detection":[58],"identify":[60],"potential":[61],"pathogenic":[62],"variants.":[63],"Filtering":[64],"steps":[65],"and":[66,85,97,130,158],"phenotype":[67],"integration":[68],"via":[69],"HPO":[70],"terms":[71],"are":[72,90],"then":[73],"applied.":[74],"The":[75,106],"score":[77,109],"(Vscore)":[78],"combines":[79],"variant":[80,126,150],"outlierness,":[81],"transcriptomic":[82],"co-expression":[83],"data,":[84],"MD-specific":[86],"annotations.":[87],"Two":[88],"rankings":[89],"derived:":[91],"the":[92,98,125,135],"rank":[94],"(all":[95],"variants)":[96],"ARrank":[99],"(variants":[100],"compatible":[101],"with":[102,113],"autosomal":[103],"recessive":[104],"inheritance).":[105],"Aggregated":[108],"(VAscore)":[110],"merges":[111],"Vscore":[112],"Exomiser's":[114],"pathogenicity":[115],"score.":[116],"Applied":[117],"20":[119],"patients":[120],"(four":[121],"diagnosed),":[122],"reduced":[124],"list":[127],">99%":[129],"ranked":[131],"causal":[132],"within":[134],"top":[136],"5":[137],"ARrank,":[139],"outperforming":[140],"existing":[141],"methods.":[142],"Overall,":[143],"is":[145],"patient-specific":[147],"strategy":[148],"prioritization,":[151],"helping":[152],"resolve":[154],"challenging":[155],"MD":[156],"cases":[157],"uncover":[159],"novel":[160],"disease":[161],"mechanisms.":[162]},"counts_by_year":[],"updated_date":"2026-03-21T08:13:44.787528","created_date":"2025-11-20T00:00:00"}