{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T15:13:31Z","timestamp":1763651611158,"version":"3.45.0"},"reference-count":66,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Agence Nationale pour la Recherche","award":["ANR 21-PMRB-0006"],"award-info":[{"award-number":["ANR 21-PMRB-0006"]}]},{"name":"French Foundation For Rare Disease"},{"DOI":"10.13039\/501100001665","name":"National Research Agency","doi-asserted-by":"crossref","award":["ANR-15-IDEX-01"],"award-info":[{"award-number":["ANR-15-IDEX-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Interpreting variants from whole-exome sequencing remains a major challenge, particularly for heterogeneous disorders such as mitochondrial diseases (MDs). To address this, we have developed Variant prIoritizatiOn using Latent spAce (VIOLA), a pipeline designed to help find a diagnosis for complex cases. VIOLA uses a variational autoencoder to embed functional annotations into a low-dimensional space, followed by DBSCAN-based outlier detection to identify potential pathogenic variants. Filtering steps and phenotype integration via HPO terms are then applied. The VIOLA score (Vscore) combines variant outlierness, transcriptomic co-expression data, and MD-specific annotations. Two rankings are derived: the VIOLA rank (all variants) and the ARrank (variants compatible with autosomal recessive inheritance). The VIOLA Aggregated score (VAscore) merges Vscore with Exomiser\u2019s pathogenicity score. Applied to 20 patients (four diagnosed), VIOLA reduced the variant list by &amp;gt;99% and ranked causal variants within the top 5 using ARrank, outperforming existing methods. Overall, VIOLA is a patient-specific strategy for variant prioritization, helping to resolve challenging MD cases and uncover novel disease mechanisms.<\/jats:p>","DOI":"10.1093\/bib\/bbaf612","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T15:10:35Z","timestamp":1763651435000},"source":"Crossref","is-referenced-by-count":0,"title":["Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce"],"prefix":"10.1093","volume":"26","author":[{"given":"Justine","family":"Labory","sequence":"first","affiliation":[{"name":"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 ,","place":["France"]},{"name":"INRAE, Universit\u00e9 C\u00f4te d\u2019Azur CNRS, Institut Sophia Agrobiotech , 400 route des chappes, BP 167 06903 Sophia Antipolis Cedex ,","place":["France"]}]},{"given":"Youssef","family":"Boulaimen","sequence":"additional","affiliation":[{"name":"House of modeling, simulations and interactions, Universit\u00e9 C\u00f4te d\u2019Azur , Parc Valrose - 28, avenue Valrose Nice Cedex 2 06108 ,","place":["France"]}]},{"given":"Jasmine","family":"Singh","sequence":"additional","affiliation":[{"name":"House of modeling, simulations and interactions, Universit\u00e9 C\u00f4te d\u2019Azur , Parc Valrose - 28, avenue Valrose Nice Cedex 2 06108 ,","place":["France"]}]},{"given":"Samira","family":"Ait-El-Mkadem Saadi","sequence":"additional","affiliation":[{"name":"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 ,","place":["France"]},{"name":"Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","place":["France"]}]},{"given":"V\u00e9ronique","family":"Paquis-Flucklinger","sequence":"additional","affiliation":[{"name":"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 ,","place":["France"]},{"name":"Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","place":["France"]}]},{"given":"Sylvie","family":"Bannwarth","sequence":"additional","affiliation":[{"name":"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 ,","place":["France"]},{"name":"Department of Medical Genetics, Reference Centre for Mitochondrial Diseases Centre Hospitalier Universitaire (CHU) de Nice , 151 Route de Saint-Antoine, 06200 Nice ,","place":["France"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0605-4646","authenticated-orcid":false,"given":"Silvia","family":"Bottini","sequence":"additional","affiliation":[{"name":"INRAE, Universit\u00e9 C\u00f4te d\u2019Azur CNRS, Institut Sophia Agrobiotech , 400 route des chappes, BP 167 06903 Sophia Antipolis Cedex ,","place":["France"]}]}],"member":"286","published-online":{"date-parts":[[2025,11,20]]},"reference":[{"key":"2025112010075061900_ref1","first-page":"1","volume":"2","author":"Gorman","year":"2016","journal-title":"Mitochondrial diseases Nature Reviews Disease Primers"},{"key":"2025112010075061900_ref2","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1136\/jmedgenet-2018-105800","article-title":"Diagnosis of \u2018possible\u2019 mitochondrial disease: An existential crisis","volume":"56","author":"Parikh","year":"2019","journal-title":"J Med Genet"},{"key":"2025112010075061900_ref3","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1159\/000446586","article-title":"Primary mitochondrial disease and secondary mitochondrial dysfunction: Importance of distinction for diagnosis and treatment","volume":"7","author":"Niyazov","year":"2016","journal-title":"Molecular Syndromology"},{"key":"2025112010075061900_ref4","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1016\/j.nmd.2017.08.006","article-title":"International workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations","volume":"27","author":"Mancuso","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"2025112010075061900_ref5","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1002\/ajmg.1391","article-title":"Clinical spectrum and diagnosis of mitochondrial disorders","volume":"106","author":"Munnich","year":"2001","journal-title":"Am J Med Genet"},{"key":"2025112010075061900_ref6","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1038\/251536a0","article-title":"Maternal inheritance of mammalian mitochondrial DNA","volume":"251","year":"1974","journal-title":"Nature"},{"key":"2025112010075061900_ref7","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1002\/path.4809","article-title":"The genetics and pathology of mitochondrial disease","volume":"241","author":"Alston","year":"2017","journal-title":"J Pathol"},{"key":"2025112010075061900_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2020.102784","volume-title":"Genetics of Mitochondrial Diseases","author":"Stenton","year":"2020"},{"key":"2025112010075061900_ref9","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s10545-015-9823-y","article-title":"Whole exome sequencing of suspected mitochondrial patients in clinical practice","volume":"38","author":"Wortmann","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"2025112010075061900_ref10","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1038\/s41431-022-01113-x","article-title":"Recommendations for whole genome sequencing in diagnostics for rare diseases","volume":"30","author":"Souche","year":"2022","journal-title":"Eur J Hum Genet"},{"key":"2025112010075061900_ref11","doi-asserted-by":"publisher","first-page":"e730","DOI":"10.1212\/WNL.0000000000200745","article-title":"Use of whole-genome sequencing for mitochondrial disease diagnosis","volume":"99","author":"Davis","year":"2022","journal-title":"Neurology"},{"key":"2025112010075061900_ref12","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1001\/jama.2014.1717","article-title":"Clinical interpretation and implications of whole-genome sequencing","volume":"311","author":"Dewey","year":"2014","journal-title":"JAMA"},{"key":"2025112010075061900_ref13","doi-asserted-by":"publisher","first-page":"1254","DOI":"10.1038\/s41436-020-0793-6","article-title":"The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease","volume":"22","author":"Riley","year":"2020","journal-title":"Genet Med"},{"key":"2025112010075061900_ref14","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1111\/cge.13190","article-title":"Clinical sequencing: From raw data to diagnosis with lifetime value","volume":"93","author":"Caspar","year":"2018","journal-title":"Clin Genet"},{"key":"2025112010075061900_ref15","doi-asserted-by":"publisher","first-page":"1271","DOI":"10.1016\/j.tig.2022.07.002","article-title":"Phenotype-aware prioritisation of rare mendelian disease variants","volume":"38","author":"Kelly","year":"2022","journal-title":"Trends Genet"},{"key":"2025112010075061900_ref16","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"2025112010075061900_ref17","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: An ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2025112010075061900_ref18","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.ajhg.2020.06.021","article-title":"Interpretable clinical genomics with a likelihood ratio paradigm","volume":"107","author":"Robinson","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2025112010075061900_ref19","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1101\/gr.160325.113","article-title":"Improved exome prioritization of disease genes through cross-species phenotype comparison","volume":"24","author":"Robinson","year":"2014","journal-title":"Genome Res"},{"key":"2025112010075061900_ref20","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1038\/nprot.2015.124","article-title":"Next-generation diagnostics and disease-gene discovery with the exomiser","volume":"10","author":"Smedley","year":"2015","journal-title":"Nat Protoc"},{"key":"2025112010075061900_ref21","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1038\/gim.2015.137","article-title":"Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency","volume":"18","author":"Bone","year":"2016","journal-title":"Genet Med"},{"key":"2025112010075061900_ref22","doi-asserted-by":"publisher","first-page":"460","DOI":"10.3390\/genes11040460","article-title":"An improved phenotype-driven tool for rare mendelian variant prioritization: Benchmarking exomiser on real patient whole-exome data","volume":"11","author":"Cipriani","year":"2020","journal-title":"Gen"},{"key":"2025112010075061900_ref23","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/s41525-024-00456-2","article-title":"Efficient reinterpretation of rare disease cases using exomiser","volume":"9","author":"Vestito","year":"2024","journal-title":"NPJ Genom Med"},{"key":"2025112010075061900_ref24","doi-asserted-by":"crossref","first-page":"eaau9113","DOI":"10.1126\/scitranslmed.aau9113","article-title":"AMELIE speeds mendelian diagnosis by matching patient phenotype and genotype to primary literature","volume":"12","author":"Birgmeier","year":"2020","journal-title":"Sci Transl Med"},{"key":"2025112010075061900_ref25","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2025112010075061900_ref26","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1038\/gim.2017.210","article-title":"Modeling the ACMG\/AMP variant classification guidelines as a Bayesian classification framework","volume":"20","author":"Tavtigian","year":"2018","journal-title":"Genet Med"},{"key":"2025112010075061900_ref27","doi-asserted-by":"publisher","first-page":"1835","DOI":"10.1002\/humu.23665","article-title":"CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases","volume":"39","author":"Nicora","year":"2018","journal-title":"Hum Mutat"},{"key":"2025112010075061900_ref28","doi-asserted-by":"publisher","first-page":"e1007453","DOI":"10.1371\/journal.pcbi.1007453","article-title":"TAPES: A tool for assessment and prioritisation in exome studies","volume":"15","author":"Xavier","year":"2019","journal-title":"PLoS Comput Biol"},{"key":"2025112010075061900_ref29","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1093\/bioinformatics\/bty649","article-title":"CharGer: Clinical characterization of germline variants","volume":"35","author":"Scott","year":"2019","journal-title":"Bioinformatics"},{"key":"2025112010075061900_ref30","doi-asserted-by":"publisher","first-page":"2126","DOI":"10.1038\/s41436-019-0439-8","article-title":"Xrare: A machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis","volume":"21","author":"Li","year":"2019","journal-title":"Genet Med"},{"key":"2025112010075061900_ref31","doi-asserted-by":"publisher","first-page":"2517","DOI":"10.1038\/s41598-022-06547-3","article-title":"A machine learning approach based on ACMG\/AMP guidelines for genomic variant classification and prioritization","volume":"12","author":"Nicora","year":"2022","journal-title":"Sci Rep"},{"key":"2025112010075061900_ref32","doi-asserted-by":"publisher","first-page":"D1478","DOI":"10.1093\/nar\/gkad1061","article-title":"VarCards2: An integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome","volume":"52","author":"Wang","year":"2024","journal-title":"Nucleic Acids Res"},{"key":"2025112010075061900_ref33","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1101\/gr.3715005","article-title":"Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes","volume":"15","author":"Siepel","year":"2005","journal-title":"Genome Res"},{"key":"2025112010075061900_ref34","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"key":"2025112010075061900_ref35","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"2025112010075061900_ref36","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1038\/s41586-020-2493-4","article-title":"Expanded encyclopaedias of DNA elements in the human and mouse genomes","volume":"583","author":"Abascal","year":"2020","journal-title":"Nature"},{"key":"2025112010075061900_ref37","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1186\/s13059-019-1653-z","article-title":"MMSplice: Modular modeling improves the predictions of genetic variant effects on splicing","volume":"20","author":"Cheng","year":"2019","journal-title":"Genome Biol"},{"key":"2025112010075061900_ref38","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","article-title":"Sequencing of 53,831 diverse genomes from the NHLBI TOPMed program","volume":"590","author":"Taliun","year":"2021","journal-title":"Nature"},{"key":"2025112010075061900_ref39","volume-title":"TensorFlow: Large-Scale Machine Learning on Heterogeneous Systems","author":"Abadi"},{"key":"2025112010075061900_ref40","first-page":"226","volume":"96","author":"Ester","year":"1996","journal-title":"A density-based algorithm for discovering clusters in large spatial databases with noise"},{"key":"2025112010075061900_ref41","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1023\/A:1009745219419","article-title":"Density-based clustering in spatial databases: The algorithm gdbscan and its applications","volume":"2","author":"Sander","year":"1998","journal-title":"Data Min Knowl Disc"},{"key":"2025112010075061900_ref42","first-page":"012012","volume-title":"Determination of Optimal Epsilon (Eps) Value on Dbscan Algorithm to Clustering Data on Peatland Hotspots in Sumatra","author":"Rahmah","year":"2016"},{"key":"2025112010075061900_ref43","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15824","article-title":"Genetic diagnosis of mendelian disorders via RNA sequencing","volume":"8","author":"Kremer","year":"2017","journal-title":"Nat Commun"},{"key":"2025112010075061900_ref44","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1038\/ng.3303","article-title":"Excess of rare, inherited truncating mutations in autism","volume":"47","author":"Krumm","year":"2015","journal-title":"Nat Genet"},{"key":"2025112010075061900_ref45","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1101\/gr.275579.121","article-title":"Benchmarking small-variant genotyping in polyploids","volume":"32","author":"Cooke","year":"2022","journal-title":"Genome Res"},{"key":"2025112010075061900_ref46","doi-asserted-by":"publisher","first-page":"D1333","DOI":"10.1093\/nar\/gkad1005","article-title":"The human phenotype ontology in 2024: Phenotypes around the world","volume":"52","author":"Gargano","year":"2024","journal-title":"Nucleic Acids Res"},{"key":"2025112010075061900_ref47","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0169-7439(99)00047-7","article-title":"The Mahalanobis distance","volume":"50","author":"De Maesschalck","year":"2000","journal-title":"Chemom Intell Lab Syst"},{"key":"2025112010075061900_ref48","author":"R Core Team R. R: A language and environment for statistical computing 2013"},{"key":"2025112010075061900_ref49","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-2105-9-559","article-title":"WGCNA: An R package for weighted correlation network analysis","volume":"9","author":"Langfelder","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"2025112010075061900_ref50","doi-asserted-by":"publisher","first-page":"D1541","DOI":"10.1093\/nar\/gkaa1011","article-title":"MitoCarta3. 0: An updated mitochondrial proteome now with sub-organelle localization and pathway annotations","volume":"49","author":"Rath","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"2025112010075061900_ref51","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","article-title":"A genomic mutational constraint map using variation in 76,156 human genomes","volume":"625","author":"Chen","year":"2024","journal-title":"Nature"},{"key":"2025112010075061900_ref52","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"1000 Genomes Project Consortium","year":"2015","journal-title":"Nature"},{"key":"2025112010075061900_ref53","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1101\/gr.9.8.677","article-title":"dbSNP\u2014Database for single nucleotide polymorphisms and other classes of minor genetic variation","volume":"9","author":"Sherry","year":"1999","journal-title":"Genome Res"},{"key":"2025112010075061900_ref54","doi-asserted-by":"publisher","first-page":"D514","DOI":"10.1093\/nar\/gki033","article-title":"Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders","volume":"33","author":"Hamosh","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"2025112010075061900_ref55","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/cpbi.5","article-title":"The GeneCards suite: From gene data mining to disease genome sequence analyses","volume":"54","author":"Stelzer","year":"2016","journal-title":"Curr Protoc Bioinformatics"},{"key":"2025112010075061900_ref56","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1126\/science.1262110","article-title":"The genotype-tissue expression (GTEx) pilot analysis: Multitissue gene regulation in humans","volume":"348","author":"GTEx Consortium","year":"2015","journal-title":"Science"},{"key":"2025112010075061900_ref57","doi-asserted-by":"publisher","first-page":"D948","DOI":"10.1093\/nar\/gkae1071","article-title":"Ensembl 2025","volume":"53","author":"Dyer","year":"2025","journal-title":"Nucleic Acids Res"},{"key":"2025112010075061900_ref58","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/0169-7439(87)80084-9","article-title":"Principal component analysis","volume":"2","author":"Wold","year":"1987","journal-title":"Chemom Intell Lab Syst"},{"key":"2025112010075061900_ref59","article-title":"Visualizing data using t-SNE","volume":"9","author":"Van der Maaten","year":"2008","journal-title":"J Mach Learn Res"},{"key":"2025112010075061900_ref60","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1002\/humu.24380","article-title":"Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease","volume":"43","author":"Jacobsen","year":"2022","journal-title":"Hum Mutat"},{"key":"2025112010075061900_ref61","doi-asserted-by":"publisher","first-page":"bbac019","DOI":"10.1093\/bib\/bbac019","article-title":"Evaluation of phenotype-driven gene prioritization methods for mendelian diseases","volume":"23","author":"Yuan","year":"2022","journal-title":"Brief Bioinform"},{"key":"2025112010075061900_ref62","doi-asserted-by":"publisher","first-page":"2010","DOI":"10.1002\/humu.24459","article-title":"Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers","volume":"43","author":"Tosco-Herrera","year":"2022","journal-title":"Hum Mutat"},{"key":"2025112010075061900_ref63","doi-asserted-by":"crossref","first-page":"1169109","DOI":"10.3389\/fmolb.2023.1169109","article-title":"Resources and tools for rare disease variant interpretation","volume":"10","author":"Licata","year":"2023","journal-title":"Front Mol Biosci"},{"key":"2025112010075061900_ref64","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1111\/cge.14257","article-title":"Improving variant prioritization in exome analysis by entropy-weighted ensemble of multiple tools","volume":"103","author":"Fan","year":"2023","journal-title":"Clin Genet"},{"key":"2025112010075061900_ref65","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s12859-019-2633-8","article-title":"DeepPVP: Phenotype-based prioritization of causative variants using deep learning","volume":"20","author":"Boudellioua","year":"2019","journal-title":"BMC Bioinformatics"},{"key":"2025112010075061900_ref66","doi-asserted-by":"publisher","DOI":"10.5694\/mja17.01176","article-title":"Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing: The integration of genome sequencing with clinical records and data from the internet of things will transform health care","volume":"209","author":"Mattick","year":"2018","journal-title":"Med J Aust"}],"container-title":["Briefings in Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bib\/article-pdf\/26\/6\/bbaf612\/65408465\/bbaf612.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bib\/article-pdf\/26\/6\/bbaf612\/65408465\/bbaf612.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T15:10:48Z","timestamp":1763651448000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bib\/article\/doi\/10.1093\/bib\/bbaf612\/8329261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,1]]},"references-count":66,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/bib\/bbaf612","relation":{},"ISSN":["1467-5463","1477-4054"],"issn-type":[{"value":"1467-5463","type":"print"},{"value":"1477-4054","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,11]]},"published":{"date-parts":[[2025,11,1]]},"article-number":"bbaf612"}}