{"id":"W4210585634","doi":"10.1002/ajmg.a.62672","title":"Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome","year":2022,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Ehlers–Danlos syndrome; Genetic testing; Joint hypermobility; Medicine; Exome sequencing; Cohort; Genetic counseling; Genetic heterogeneity; Internal medicine; Genetic diagnosis; Molecular genetics; Pediatrics; Dermatology; Genetics; Physical therapy; Mutation; Biology; Phenotype; 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":[0.001762784,0.0004281748,0.0003804875,0.001251195,0.0007238676,0.001024459,0.0004896715,0.0007436759,0.001537899],"category_scores_gemma":[0.01885933,0.000297693,0.0005061168,0.0007871553,0.00090365,0.0007313295,0.0008420528,0.001063204,0.0003126039],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007470407,"about_ca_system_score_gemma":0.0008158439,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004358691,"about_ca_topic_score_gemma":0.002796507,"domain_scores_codex":[0.9975135,0.0006221368,0.0002924661,0.0003950234,0.0007455617,0.0004312865],"domain_scores_gemma":[0.9926993,0.003538494,0.001917112,0.0002928055,0.0008180081,0.000734313],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005111263,0.00001369305,0.9972862,0.000004489385,0.000006370617,0.001068397,0.00009266881,0.00006220641,0.000135658,0.0000309042,0.0001124463,0.001135881],"study_design_scores_gemma":[0.00001905284,0.0001863129,0.9812602,0.00003492087,0.00003901668,0.01598293,0.0008652416,0.0007009854,0.0004601901,0.00008710137,0.0003473227,0.00001665378],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987838,0.0003083837,0.00006906888,0.00009140171,0.00001168397,0.000009352093,0.0001011004,0.000006538346,0.0006187823],"genre_scores_gemma":[0.9996122,0.00009456575,0.00009942877,0.00003217852,0.000009182263,0.000007979042,0.0001086827,0.000002746492,0.00003311772],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004358691,"threshold_uncertainty_score":0.009322584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01276655288921853,"score_gpt":0.2961118618506495,"score_spread":0.283345308961431,"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."}}