{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002910216,0.0002670066,0.0003957127,0.00146019,0.0003321841,0.0004343089,0.0002467821,0.0003307402,0.001911656],"category_scores_gemma":[0.001136207,0.0001169509,0.0003353854,0.001084206,0.0003023271,0.0002051514,0.0004955551,0.0002189286,0.0001454934],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000231625,"about_ca_system_score_gemma":0.0002134564,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001110928,"about_ca_topic_score_gemma":0.001462458,"domain_scores_codex":[0.9994636,0.00004732427,0.00005924291,0.0002092979,0.0001446181,0.00007586568],"domain_scores_gemma":[0.9992189,0.000366841,0.0002484586,0.00005187667,0.0000439136,0.00006986103],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008383921,0.0000622259,0.7880388,0.0001647204,0.000259646,0.006706459,0.0002460612,0.0006025958,0.1825986,0.0005573435,0.0003386386,0.01958662],"study_design_scores_gemma":[0.00002966628,0.0001275674,0.9630623,0.0000221514,0.0001816367,0.01335041,0.0001903643,0.002091497,0.01876765,0.000453641,0.001712832,0.00001039205],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978434,0.0004557571,0.0008354356,0.00001976924,0.000003764668,0.00000635219,0.0005127505,0.00001496693,0.0003077462],"genre_scores_gemma":[0.9985455,0.0001181518,0.0006557982,0.00001505581,0.000005838486,0.000006203997,0.0005247599,0.000004741408,0.0001239638],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001911656,"threshold_uncertainty_score":0.006395161,"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."}}