{"id":"W2162910594","doi":"10.1111/cge.12575","title":"Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis","year":2015,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal General Hospital; McMaster University","funders":"","keywords":"Genetics; Gene; Genetic testing; Intellectual disability; Biology; Mutation; Chromosome","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":[0.0004240175,0.0003656292,0.0004222206,0.001339675,0.0003796478,0.0006018855,0.0003849824,0.0005657648,0.001562596],"category_scores_gemma":[0.002545902,0.0001132042,0.0001921806,0.000707432,0.0004156457,0.0004530272,0.0005254776,0.0003546001,0.0003676873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002113569,"about_ca_system_score_gemma":0.0003783281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001306159,"about_ca_topic_score_gemma":0.001282144,"domain_scores_codex":[0.9994637,0.00009509193,0.00008829737,0.0001233041,0.0001313958,0.0000982007],"domain_scores_gemma":[0.9990448,0.0003823226,0.0002451506,0.00005961467,0.0001045166,0.0001635975],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007424591,0.00003256895,0.9796211,0.00002022117,0.000007902641,0.007792854,0.0002659825,0.00007361517,0.004819664,0.00006861623,0.0001157448,0.007107482],"study_design_scores_gemma":[0.000009226576,0.0001814843,0.9353567,0.00003274492,0.00002862601,0.05897192,0.0008922323,0.0007643879,0.002961506,0.000209259,0.0005798637,0.00001215326],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998333,0.0003365234,0.0003352597,0.00007427666,0.000004577001,0.00001961852,0.0001139451,0.00001152269,0.0007714718],"genre_scores_gemma":[0.9990411,0.0001935574,0.0004401531,0.000053647,0.000008767818,0.00001015561,0.0001475635,0.000005548727,0.00009933748],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001562596,"threshold_uncertainty_score":0.005227387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1242041046937532,"score_gpt":0.3376070603685828,"score_spread":0.2134029556748296,"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."}}