{"id":"W2801795754","doi":"10.1016/j.ajhg.2018.03.025","title":"Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Seventh Framework Programme; European Research Council; Ministry of Health, State of Israel; Deutsche Forschungsgemeinschaft","keywords":"Primary ciliary dyskinesia; Cilium; Anatomy; Medicine; Dynein; Asymmetry; Biology; Genetics; Internal medicine; Physics; Bronchiectasis; Lung; Microtubule","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":[0.0002201562,0.0001270038,0.0003230165,0.0001337193,0.00004314439,0.000009556692,0.0001832107,0.00003082423,0.000008345375],"category_scores_gemma":[0.00005019999,0.00008442844,0.00005864026,0.000166393,0.0005146873,0.000004223583,0.00005976308,0.00006377874,5.354448e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000976388,"about_ca_system_score_gemma":0.0001317196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001144618,"about_ca_topic_score_gemma":0.00003497242,"domain_scores_codex":[0.9990209,0.0001385241,0.0003982855,0.000132693,0.0001716512,0.0001379695],"domain_scores_gemma":[0.9989198,0.00002987835,0.0004363344,0.0002348642,0.0002752185,0.0001038337],"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":[0.001962165,0.0002297983,0.06370508,0.00005231296,0.0002418868,0.00002589398,0.00117798,0.0006239699,0.9296809,0.00001147826,0.0005421931,0.001746369],"study_design_scores_gemma":[0.004234577,0.00600207,0.5496726,0.0001267916,0.0003260229,0.0002558646,0.0008067581,0.00005428906,0.4377708,0.0002723034,0.0002065952,0.0002712552],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961804,0.0004595197,0.002941162,0.0001195141,0.00003207758,0.000156745,0.00001345786,0.000001303307,0.00009583723],"genre_scores_gemma":[0.9975159,0.0001044743,0.001902419,0.0002889019,0.0001204099,0.000002234734,0.00001341819,0.00001809229,0.00003411022],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.49191,"threshold_uncertainty_score":0.3442892,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004290784764363464,"score_gpt":0.2386842353104804,"score_spread":0.234393450546117,"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."}}