{"id":"W2993831323","doi":"10.1212/nxg.0000000000000378","title":"Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders","year":2019,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; GlaxoSmithKline","keywords":"Copy-number variation; Clinical significance; OMIM : Online Mendelian Inheritance in Man; Mendelian inheritance; Genetics; Gene duplication; Exon; Relevance (law); Medicine; Biology; Gene; Bioinformatics; Genome; Phenotype; Pathology","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":[0.0001350249,0.0001265618,0.0001843253,0.00003993979,0.00001841454,0.000008555787,0.0001748162,0.0002139755,0.00003165653],"category_scores_gemma":[0.0001518789,0.0001335136,0.00007755474,0.00005664079,0.0001367374,0.00000344036,0.0001611481,0.0001537569,0.00001912677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003052557,"about_ca_system_score_gemma":0.00008726176,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006448125,"about_ca_topic_score_gemma":0.00003059754,"domain_scores_codex":[0.998784,0.0001389972,0.0003903492,0.0003892631,0.00007841604,0.0002189837],"domain_scores_gemma":[0.9995111,0.00006259944,0.00007875513,0.0002393298,0.00004667862,0.0000615079],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004184545,0.000208788,0.9186493,0.00002741238,0.00002136041,0.000008085774,0.0000521823,0.0002387963,0.07444488,0.00007836454,0.00009211103,0.005760292],"study_design_scores_gemma":[0.00101452,0.0009002621,0.9890997,0.000007320783,0.00001699654,0.00002621646,0.0000324343,0.002248785,0.004617854,0.0004070668,0.001428848,0.0001999318],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997824,0.0001286438,0.0002474943,0.0001303673,0.0007249911,0.0001698503,0.0000117618,0.000004688687,0.0007582705],"genre_scores_gemma":[0.9982124,0.0002971012,0.0004519352,0.0008912857,0.00005260036,0.0000066967,0.00003702471,0.00002205163,0.00002890925],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07045048,"threshold_uncertainty_score":0.5444528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006903764828108048,"score_gpt":0.2915143961151876,"score_spread":0.2846106312870796,"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."}}