{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006572415,0.0001875955,0.0003979548,0.0001750158,0.0000927149,0.00001634228,0.0006586058,0.00005057992,0.00008907811],"category_scores_gemma":[0.002542737,0.0001679042,0.0001140763,0.0004949211,0.0003104292,0.000002381168,0.0002635246,0.0003940037,0.000001157619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000051608,"about_ca_system_score_gemma":0.0005669747,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005520817,"about_ca_topic_score_gemma":0.00003702942,"domain_scores_codex":[0.9974296,0.0002833383,0.0004655887,0.0003144515,0.001065655,0.000441377],"domain_scores_gemma":[0.998615,0.0003348659,0.0002869388,0.0002681631,0.0002098562,0.0002852037],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001430583,0.0003418992,0.9619539,0.00001078171,0.0003768136,0.000382123,0.00008135041,0.003166873,0.004942163,0.000007685167,0.0002494584,0.02834388],"study_design_scores_gemma":[0.004334401,0.01116914,0.9752184,0.00006558303,0.0001077778,0.003526291,0.0007816665,0.0006019186,0.00147103,0.0001174009,0.002128063,0.0004783016],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942011,0.001632525,0.002777982,0.0008487254,0.00006214463,0.0004359919,0.00002064179,0.000004621096,0.00001628296],"genre_scores_gemma":[0.9963682,0.0001541508,0.002883907,0.0003341757,0.00006752811,0.0001026972,0.00002110448,0.00004645887,0.00002176225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02786558,"threshold_uncertainty_score":0.6846935,"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."}}