{"id":"W4309166265","doi":"10.1007/s00439-022-02482-5","title":"Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development","year":2022,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Genome Canada; University of Guelph","funders":"Mohammed Bin Rashid University of Medicine and Health Sciences; Al Jalila Foundation","keywords":"Copy-number variation; Biology; Genetics; Gene; Gene duplication; Human genetics; Candidate gene; Phenotype; Microarray analysis techniques; Genome; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002065418,0.0001652753,0.0001219189,0.00007018331,0.0004945552,0.00005197781,0.0001295508,0.00005121495,0.00004457954],"category_scores_gemma":[0.00001328317,0.0002031388,0.00003372548,0.00007999958,0.00007683327,0.000005018664,0.000373061,0.0001092132,6.50454e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000758996,"about_ca_system_score_gemma":0.00019565,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004193997,"about_ca_topic_score_gemma":0.000308991,"domain_scores_codex":[0.9988613,0.00007778068,0.0003059873,0.0002969639,0.0001244022,0.0003335796],"domain_scores_gemma":[0.9996687,0.0000103413,0.00009384391,0.0001406135,0.00002377632,0.00006279178],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001656381,0.00004468453,0.4301667,0.00001752546,0.00004708497,0.000008225985,0.003108575,0.0008132146,0.5611011,0.000124852,0.000005354014,0.00454618],"study_design_scores_gemma":[0.001061306,0.0002630982,0.9700338,0.00001023316,0.00001777934,0.0002290926,0.007518595,0.0002244778,0.01698252,0.0001294737,0.00299618,0.0005334746],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984563,0.000798855,0.00009444395,0.00001827917,0.00006525758,0.0001617622,0.00002473228,0.00001161999,0.0003687228],"genre_scores_gemma":[0.9959348,0.00006030001,0.003558533,0.00006447257,0.00005102962,0.00004690116,0.00008234932,0.00002594839,0.0001756979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5441185,"threshold_uncertainty_score":0.828376,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01094097064122736,"score_gpt":0.2195085403500502,"score_spread":0.2085675697088228,"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."}}