{"id":"W3190200421","doi":"10.1007/s10048-021-00664-3","title":"Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic","year":2021,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; McGill University; Douglas Mental Health University Institute","funders":"Canada First Research Excellence Fund; McGill University Health Centre","keywords":"Autism; Human genetics; Medicine; Autism spectrum disorder; Psychiatry; Genetic testing; Medical genetics; Intellectual disability; Cohort; Neurology; Genome-wide association study; Exome sequencing; Genetics; Single-nucleotide polymorphism; Genotype; Gene; Biology; Internal medicine; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001414225,0.0001688935,0.0001575484,0.00007354948,0.00004860843,0.00004359055,0.0001421062,0.0001891613,0.00001508206],"category_scores_gemma":[0.0002641441,0.0001937996,0.00003826736,0.0002853182,0.00004236966,0.000004036568,0.000190326,0.0001721532,0.000005739099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001083866,"about_ca_system_score_gemma":0.0002394032,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002266096,"about_ca_topic_score_gemma":0.0004570762,"domain_scores_codex":[0.9984154,0.0001679202,0.0004549562,0.000484107,0.0001934531,0.000284172],"domain_scores_gemma":[0.9994161,0.00001595359,0.0000770531,0.0002823904,0.00008932302,0.0001191862],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003728556,0.0003069908,0.7300144,0.00006847779,0.000009203117,0.0001624121,0.0000944902,0.0005007404,0.2576135,0.00001040213,0.0000396492,0.01114246],"study_design_scores_gemma":[0.003321861,0.0005321796,0.8909366,0.0001141573,0.00003052433,0.0005697981,0.0001741527,0.01460476,0.08805756,0.0000566029,0.001056341,0.0005454328],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962516,0.00306593,0.00005635686,0.0001269913,0.0002583114,0.000136209,0.00001066192,0.000007219047,0.00008674172],"genre_scores_gemma":[0.9950619,0.002363116,0.001390963,0.0007204459,0.0003167046,0.00001358674,0.00005987405,0.0000294256,0.00004394236],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.169556,"threshold_uncertainty_score":0.7902917,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0407342701928449,"score_gpt":0.2542737829488037,"score_spread":0.2135395127559588,"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."}}