{"id":"W2939321522","doi":"10.15252/emmm.201910486","title":"International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases","year":2019,"lang":"en","type":"article","venue":"EMBO Molecular Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Transparency (behavior); Medicine; Business; Computer science; Computer security","routes":{"ca_aff":true,"ca_fund":false,"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":[],"consensus_categories":[],"category_scores_codex":[0.00004281438,0.0001178454,0.0001330119,0.00004919742,0.00005769186,0.00001662483,0.00007559273,0.00004528047,0.00003765919],"category_scores_gemma":[0.0001063325,0.00009761179,0.00002327528,0.00007818148,0.00006684447,0.000003969059,0.00003424039,0.00002448975,0.000001173568],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009101322,"about_ca_system_score_gemma":0.0000640598,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000614465,"about_ca_topic_score_gemma":0.00001998305,"domain_scores_codex":[0.9993901,0.00001823332,0.000116807,0.0002726243,0.00008671893,0.0001155675],"domain_scores_gemma":[0.9995531,0.00002451106,0.0000324523,0.000123897,0.0001412609,0.0001247445],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001041256,0.000222084,0.03195307,0.0002165405,0.0009902732,0.00004748667,0.004570969,0.000113067,0.9236341,0.006767037,0.01349403,0.0169501],"study_design_scores_gemma":[0.01168233,0.003842428,0.1594612,0.0003557608,0.0004767764,0.00007555955,0.02624378,0.0001527472,0.0469222,0.003684454,0.7456658,0.00143698],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9825817,0.00684076,0.005252743,0.003615787,0.0002245114,0.0005292344,0.0002505073,0.000007979748,0.0006967385],"genre_scores_gemma":[0.9965236,0.001143045,0.000626176,0.001025262,0.00009861116,0.00004595642,0.0003074839,0.00001641781,0.0002134356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8767119,"threshold_uncertainty_score":0.3980493,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01099946749252177,"score_gpt":0.275058349253973,"score_spread":0.2640588817614512,"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."}}