{"id":"W2002244288","doi":"10.1002/ajmg.a.33416","title":"Co‐occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; University of Toronto; University of British Columbia","funders":"National Center for Research Resources","keywords":"Ciliopathy; Joubert syndrome; Polydactyly; Genetics; Retinitis pigmentosa; Biology; Ectodermal dysplasia; Nephronophthisis; Disease gene identification; Locus (genetics); Holoprosencephaly; Dystrophy; Cilium; Mutation; Exome sequencing; Gene; Pregnancy","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003265643,0.0009826303,0.0007117768,0.001405337,0.001198235,0.000539491,0.0004853894,0.001246187,0.002514623],"category_scores_gemma":[0.003704454,0.0007302089,0.0004334748,0.00104549,0.00135903,0.0005735893,0.001256067,0.0009716581,0.0003354956],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002836853,"about_ca_system_score_gemma":0.0004737917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001763896,"about_ca_topic_score_gemma":0.002802979,"domain_scores_codex":[0.9988477,0.0002037536,0.0001572864,0.0003578002,0.000212566,0.0002208529],"domain_scores_gemma":[0.9968706,0.001144716,0.0009865197,0.0002085362,0.0001502466,0.0006393806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002632985,0.00007696346,0.3819376,0.00005712886,0.00007478758,0.5977641,0.001088337,0.0001454633,0.01388594,0.0004799146,0.0002248631,0.004001654],"study_design_scores_gemma":[0.00001690949,0.0001558791,0.1325905,0.00001304741,0.00004709345,0.8641334,0.0003703766,0.0001345728,0.001859812,0.0001320346,0.0005268939,0.00001950173],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997465,0.0004031806,0.0004763874,0.0001193349,0.00002130318,0.0000131289,0.000062553,0.00001985483,0.00141926],"genre_scores_gemma":[0.998997,0.0001498029,0.0004569009,0.00004395442,0.000034347,0.000006440914,0.00005286772,0.000006673683,0.0002519401],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002514623,"threshold_uncertainty_score":0.008412302,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006879576551911187,"score_gpt":0.2982741381279388,"score_spread":0.2913945615760277,"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."}}