{"id":"W4287957885","doi":"","title":"Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.","year":2020,"lang":"en","type":"article","venue":"PubMed","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Genetic testing; Grading (engineering); Medicine; Agency (philosophy); Human genetics; Systematic review; Family medicine; Psychology; MEDLINE; Genetics; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001143246,0.0001758526,0.0002087632,0.00004148426,0.0001621575,0.00003583618,0.0002065769,0.00009714501,0.00001319758],"category_scores_gemma":[0.0007000563,0.0001558067,0.00008801654,0.0001079185,0.000117498,0.000005549867,0.0001505799,0.00005648812,0.000002606439],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001229872,"about_ca_system_score_gemma":0.0004618672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000110076,"about_ca_topic_score_gemma":0.0001009116,"domain_scores_codex":[0.9987348,0.00002555463,0.000277614,0.0004165822,0.00007624994,0.0004692434],"domain_scores_gemma":[0.999438,0.00005054275,0.00008316708,0.0001464668,0.00005955798,0.0002221936],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004922834,0.0009234142,0.620535,0.002021523,0.002883205,0.00008563045,0.005087569,0.000448891,0.2469819,0.001156377,0.01133646,0.1036172],"study_design_scores_gemma":[0.01345596,0.002258438,0.3649724,0.00002806448,0.0001659451,0.0001921435,0.09764335,0.0007039834,0.06659093,0.0005364973,0.4505246,0.00292767],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936215,0.0004940775,0.001481511,0.002409837,0.00009089641,0.001310771,0.0003465892,0.00005055708,0.0001942029],"genre_scores_gemma":[0.9921481,0.00005712088,0.003529161,0.001397744,0.0001480381,0.001952846,0.0004634527,0.00003267798,0.0002708755],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4391882,"threshold_uncertainty_score":0.6353614,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03909686979178827,"score_gpt":0.2577335019585026,"score_spread":0.2186366321667144,"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."}}