{"id":"W3033665581","doi":"10.1002/ajmg.a.61621","title":"Maternal <scp>SLE</scp> and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo <scp><i>RAF1</i></scp> and <scp><i>SIX2</i></scp> variants","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; Mount Sinai Hospital; North York General Hospital; University of Toronto","funders":"","keywords":"Exome sequencing; Medicine; Phenotype; Hypoplasia; Genetics; Biology; Internal medicine; Gene","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":[0.0002422599,0.000984618,0.0004192205,0.00151679,0.001131519,0.0005961478,0.0004853075,0.002006139,0.001561699],"category_scores_gemma":[0.001300824,0.0005195276,0.0005372925,0.0006069535,0.0009032713,0.0004296922,0.0007612058,0.001261383,0.0003131832],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000612105,"about_ca_system_score_gemma":0.0004033716,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002760874,"about_ca_topic_score_gemma":0.002757464,"domain_scores_codex":[0.999579,0.00004424636,0.00005461623,0.0001521918,0.00006799725,0.0001018787],"domain_scores_gemma":[0.9993674,0.0002258445,0.0001459781,0.00003592709,0.00003131863,0.0001935881],"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":[0.00007805457,0.00003559925,0.03382359,0.00002495723,0.00001480142,0.9547555,0.0005645289,0.00009832304,0.008237738,0.0001969976,0.0001348533,0.002034971],"study_design_scores_gemma":[0.00001029825,0.0000874903,0.02684214,0.00001068474,0.00002019887,0.9701017,0.0001603052,0.0002326416,0.002071981,0.00009140373,0.0003609885,0.00001013751],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970438,0.0003496878,0.0006362269,0.0004150923,0.00002580713,0.00002556106,0.0001178715,0.00002748968,0.001358438],"genre_scores_gemma":[0.9988223,0.0001544283,0.0004980536,0.00009070722,0.00003167586,0.000005957306,0.00003632484,0.00000702736,0.0003535608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002760874,"threshold_uncertainty_score":0.005489647,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007876109423581018,"score_gpt":0.22474557394268,"score_spread":0.216869464519099,"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."}}