{"id":"W4212853299","doi":"10.1002/humu.24353","title":"The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases","year":2022,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Toronto Centre for Phenogenomics; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"H2020 Health; National Institute of Child Health and Human Development; Instituto de Salud Carlos III; Canadian Institutes of Health Research; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission; European Regional Development Fund; Horizon 2020 Framework Programme; Canada Research Chairs; National Institutes of Health; Ministerio de Asuntos Económicos y Transformación Digital, Gobierno de España; FP7 Health; Departament de Salut, Generalitat de Catalunya; Muscular Dystrophy Canada; Generalitat de Catalunya; Centres de Recerca de Catalunya","keywords":"Phenome; Genome; Biology; Computational biology; Exome; Exome sequencing; Translational bioinformatics; Genomics; Disease; Bioinformatics; Gene; Genetics; Phenotype; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005416537,0.001274011,0.0009184434,0.004345459,0.0006836545,0.002912909,0.00203645,0.001155502,0.01622377],"category_scores_gemma":[0.01193534,0.0007313036,0.001311044,0.002826215,0.0004730571,0.002268833,0.007256121,0.001724637,0.009003676],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007249107,"about_ca_system_score_gemma":0.002253936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002540067,"about_ca_topic_score_gemma":0.005056483,"domain_scores_codex":[0.9974923,0.0008314784,0.0001600492,0.0006336205,0.0007200851,0.0001624649],"domain_scores_gemma":[0.9932404,0.002564525,0.00073323,0.001614318,0.0007963137,0.001051309],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003329369,0.0002814045,0.02773683,0.002001375,0.000801637,0.00136016,0.0009996705,0.004555779,0.03088684,0.01988347,0.6520667,0.2560968],"study_design_scores_gemma":[0.001552098,0.0005015887,0.06631546,0.001035786,0.0007460818,0.004548406,0.0004360905,0.03999135,0.0272619,0.04727687,0.8098369,0.0004974172],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.09226777,0.007828498,0.3164424,0.018064,0.001876223,0.002148837,0.2572698,0.2133414,0.09076107],"genre_scores_gemma":[0.1990735,0.004125334,0.507321,0.005817528,0.001321709,0.00195412,0.2533839,0.01275148,0.01425139],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01622377,"threshold_uncertainty_score":0.0542739,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05137062035894104,"score_gpt":0.3239906849892991,"score_spread":0.272620064630358,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}