{"id":"W2906649950","doi":"10.1002/ajmg.c.31662","title":"The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®","year":2018,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Genome British Columbia; Genome Alberta; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics Institute","keywords":"Phenotype; Genetics; Clinical phenotype; Medicine; Disease; Atlas (anatomy); Biology; Pathology; Gene; Anatomy","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":[0.002514746,0.000471849,0.0005219626,0.01311602,0.0008720339,0.002448321,0.0007505121,0.0004808167,0.007694155],"category_scores_gemma":[0.01442007,0.0002087503,0.0004246643,0.01702615,0.0004956349,0.002007053,0.002361245,0.0007080005,0.004031735],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008811766,"about_ca_system_score_gemma":0.002427397,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003558361,"about_ca_topic_score_gemma":0.00594121,"domain_scores_codex":[0.9983701,0.0002803645,0.0002738544,0.0002981344,0.0006652008,0.0001124279],"domain_scores_gemma":[0.9872555,0.006670628,0.002560091,0.001054284,0.001750857,0.0007086389],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0008844386,0.0001143128,0.1470744,0.003692436,0.0003369695,0.006159987,0.003579294,0.001638444,0.01747493,0.03959174,0.4585422,0.3209108],"study_design_scores_gemma":[0.00006216714,0.0001104147,0.1993544,0.0008768723,0.0002301857,0.006520966,0.002345804,0.004262478,0.004579325,0.01436413,0.7671964,0.00009702265],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.3922331,0.02831715,0.03726459,0.01545984,0.002058046,0.0002892216,0.4797462,0.01006145,0.03457045],"genre_scores_gemma":[0.3808852,0.01713327,0.07739636,0.003793073,0.001237935,0.0004646554,0.5058466,0.002050912,0.01119202],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01311602,"threshold_uncertainty_score":0.02573949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008319099478242584,"score_gpt":0.2801606203290996,"score_spread":0.2718415208508569,"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."}}