{"id":"W4392589475","doi":"10.1016/j.gimo.2024.101539","title":"P633: Clinical and genetic findings of >3,900 individuals tested via the navigateAPDS sponsored genetic testing program","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Genetic testing; Genetics; Psychology; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002813667,0.0002143547,0.0001365825,0.0007783433,0.0003269132,0.0003717356,0.0002096465,0.0003440519,0.002872183],"category_scores_gemma":[0.0008600086,0.0001298826,0.0001508097,0.0007812112,0.0002006168,0.0001738693,0.0003331012,0.000255585,0.0008478643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003646028,"about_ca_system_score_gemma":0.0004418361,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01298843,"about_ca_topic_score_gemma":0.0170147,"domain_scores_codex":[0.9998001,0.00002307752,0.00001932822,0.00005548699,0.00008202058,0.00001995906],"domain_scores_gemma":[0.9997361,0.00005165355,0.00005797035,0.000008385475,0.00007623512,0.0000696577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001482831,0.00004186411,0.9369096,0.00004771139,0.00005806783,0.004657153,0.0002585129,0.00009307982,0.003652719,0.0001890305,0.01243489,0.04150899],"study_design_scores_gemma":[0.00002932505,0.00009475354,0.9605225,0.00006204721,0.00005817035,0.02277138,0.0004160674,0.0002202723,0.001017895,0.0002533348,0.01453957,0.00001458253],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9780198,0.003594692,0.0005483298,0.001359664,0.0000537767,0.00004218864,0.005338416,0.00007005633,0.01097318],"genre_scores_gemma":[0.9897302,0.00255897,0.000729267,0.0004338922,0.00008225333,0.00001891372,0.00316352,0.000030593,0.003252337],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01298843,"threshold_uncertainty_score":0.02582562,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04380047582705456,"score_gpt":0.3789798995853899,"score_spread":0.3351794237583353,"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."}}