{"id":"W4212972218","doi":"10.1002/humu.24354","title":"Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.","year":2022,"lang":"en","type":"article","venue":"PubMed","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network; Newborn Screening Ontario; McGill University; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Canadian Institutes of Health Research","keywords":"Standardization; Data collection; Data science; Data access; Computer science; Data sharing; World Wide Web; Database; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["open_science"],"consensus_categories":[],"category_scores_codex":[0.01175653,0.001559422,0.00140422,0.007077129,0.002466747,0.004873849,0.00603249,0.001815824,0.03169983],"category_scores_gemma":[0.027716,0.001177838,0.001892041,0.008427572,0.001261021,0.003497489,0.01487861,0.002454014,0.01159981],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01037484,"about_ca_system_score_gemma":0.04665907,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5687025,"about_ca_topic_score_gemma":0.6577404,"domain_scores_codex":[0.9942811,0.001184637,0.0003900372,0.001100103,0.002289811,0.0007543526],"domain_scores_gemma":[0.9792684,0.004363038,0.001021336,0.005777082,0.005244641,0.004325494],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002859532,0.0001598747,0.0187526,0.001499785,0.001139667,0.00098873,0.002803416,0.004821476,0.007998347,0.02860136,0.8034694,0.126906],"study_design_scores_gemma":[0.0005569712,0.00007986831,0.01652748,0.0006007226,0.0003131511,0.0003918997,0.001228035,0.01089907,0.005372936,0.03145677,0.9320703,0.0005029333],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.01237222,0.003444566,0.1202766,0.009805686,0.001141557,0.001555673,0.7092964,0.08977445,0.05233274],"genre_scores_gemma":[0.08465533,0.002805796,0.2669872,0.005500244,0.0003060961,0.002082511,0.603699,0.01413808,0.0198257],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.9939675,"threshold_uncertainty_score":0.8676751,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02470455690855912,"score_gpt":0.2359403151682506,"score_spread":0.2112357582596914,"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."}}