{"id":"W4212816860","doi":"10.1002/humu.24348","title":"PhenomeCentral: 7 years of rare disease matchmaking","year":2022,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Sunnybrook Health Science Centre; University of Toronto; University Health Network; Ontario Neurotrauma Foundation; Health Sciences Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research","keywords":"Biology; Data sharing; Phenotype; Set (abstract data type); Genotype-phenotype distinction; Data set; Disease; Computational biology; Genomics; Computer science; Genome; Data science; Bioinformatics; Gene; Genetics; Artificial intelligence; 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":[],"consensus_categories":[],"category_scores_codex":[0.00003890759,0.00003999384,0.00004106098,0.00002471045,0.00008538683,0.000006581176,0.00007258304,0.000009727733,0.0001384748],"category_scores_gemma":[0.000008112955,0.00005012664,0.00004556693,0.00003323841,0.00001629791,0.000001279068,0.00006199365,0.00002230248,0.000001700785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001003329,"about_ca_system_score_gemma":0.00003250518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006302848,"about_ca_topic_score_gemma":0.000002068924,"domain_scores_codex":[0.9996166,0.00002634204,0.00008839414,0.0001165697,0.00007881779,0.00007328146],"domain_scores_gemma":[0.9997694,0.000001857847,0.00005728155,0.0001148774,0.0000189671,0.00003759709],"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":[0.0004729795,0.0006702346,0.01832536,0.0001869057,0.0001665644,0.000221075,0.001554263,0.02314298,0.9210064,0.007783812,0.005544544,0.02092485],"study_design_scores_gemma":[0.002707127,0.000702895,0.895865,0.00002505419,0.0001673734,0.00003534233,0.00257415,0.0004469796,0.01707276,0.008619827,0.07099433,0.0007891759],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990077,0.0004425038,0.00008622326,0.00001695944,0.00006178335,0.00007971127,0.00006883752,0.00000521525,0.0002310721],"genre_scores_gemma":[0.9989014,0.000005849019,0.00004709059,0.00006997718,0.00005051411,0.00001726624,0.0007340477,0.00001051569,0.0001633226],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9039336,"threshold_uncertainty_score":0.2044105,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009900009856947955,"score_gpt":0.2480140772386849,"score_spread":0.238114067381737,"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."}}