{"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":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.0002825363,0.00009840447,0.0001040273,0.0000939401,0.002019019,0.0002221012,0.000171702,0.00002627062,0.00002126366],"category_scores_gemma":[0.00008327609,0.00008275964,0.0001107002,0.000171519,0.00008061193,0.00001174661,0.0002116429,0.00006465202,4.861488e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003460109,"about_ca_system_score_gemma":0.00005374592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002680918,"about_ca_topic_score_gemma":0.0001000419,"domain_scores_codex":[0.999036,0.00007558468,0.0001735566,0.0003220194,0.0001614677,0.0002314444],"domain_scores_gemma":[0.9994401,0.0000966626,0.0000796508,0.0002305619,0.00008904198,0.00006395506],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00209604,0.001832257,0.2396207,0.0003963015,0.007178951,0.0001414861,0.004375699,0.0440249,0.6345476,0.02299271,0.01193545,0.03085794],"study_design_scores_gemma":[0.005881764,0.005698369,0.7923944,0.00002295783,0.002393629,0.00005563784,0.02184171,0.003940069,0.03265629,0.04209937,0.0906774,0.002338388],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940398,0.004592994,0.0002833543,0.0001083801,0.0000414122,0.0003862287,0.000493883,0.000007200002,0.00004680201],"genre_scores_gemma":[0.994902,0.0002192438,0.0000541452,0.00007399148,0.0001853641,0.0007181473,0.003529986,0.00001877299,0.0002984032],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6018913,"threshold_uncertainty_score":0.9992802,"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."}}