{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0057988,0.0006110691,0.0005115794,0.003694162,0.0003390987,0.001457615,0.000646584,0.0005745074,0.004079426],"category_scores_gemma":[0.02766071,0.0002080062,0.000314182,0.001513714,0.0004607115,0.0008827506,0.0009839057,0.0004395537,0.0008657983],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004806187,"about_ca_system_score_gemma":0.0007167954,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002505705,"about_ca_topic_score_gemma":0.00359973,"domain_scores_codex":[0.9978493,0.0008377284,0.0003375645,0.0003468523,0.0005152739,0.0001131589],"domain_scores_gemma":[0.9836998,0.01068386,0.001901447,0.0009268191,0.002286722,0.0005013694],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00275359,0.0002398366,0.5874522,0.0003406746,0.0001519266,0.0007058915,0.0004902781,0.002516394,0.03076871,0.000757371,0.006397546,0.3674254],"study_design_scores_gemma":[0.0002279277,0.001039557,0.8453635,0.000204883,0.0003590203,0.006206617,0.0006363492,0.05998461,0.07248729,0.002798191,0.01052522,0.0001667874],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9261458,0.002429095,0.05775692,0.0009300662,0.0001714139,0.0004959106,0.002741603,0.00267192,0.006657202],"genre_scores_gemma":[0.8832701,0.00042,0.1136856,0.0002000138,0.000134632,0.0001238086,0.001141855,0.0001491766,0.0008748168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0057988,"threshold_uncertainty_score":0.03066736,"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."}}