{"id":"W4220977644","doi":"10.1007/s10048-022-00689-2","title":"Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort","year":2022,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Genome Canada","funders":"","keywords":"Copy-number variation; Human genetics; Genetics; Biology; Microarray; DECIPHER; Gene duplication; Gene; Microarray analysis techniques; Population; Candidate gene; Genome; Medicine","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":[0.00007558423,0.0001255388,0.0001134084,0.00003028725,0.0001247414,0.00001500507,0.0001284472,0.00005248669,0.00004969216],"category_scores_gemma":[0.000006196959,0.0001505359,0.00002700162,0.00009284289,0.00005610926,0.00000490756,0.0001590293,0.00007857814,7.840457e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000138482,"about_ca_system_score_gemma":0.0000511769,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004878915,"about_ca_topic_score_gemma":0.0001181717,"domain_scores_codex":[0.9990693,0.0001138884,0.0002306454,0.000304418,0.0001144902,0.0001672913],"domain_scores_gemma":[0.9996688,0.000005491951,0.00007666336,0.0001792405,0.00002205428,0.00004780156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002449617,0.00007984023,0.3628876,0.000006030699,0.00001036457,0.000001154244,0.00007493124,0.0001847369,0.6359336,0.000005787651,0.00003125897,0.0007601462],"study_design_scores_gemma":[0.0007013101,0.0005682312,0.2586405,0.000001546222,0.00001898182,0.00009406307,0.0002726218,0.0001920671,0.7322521,0.00002870073,0.006980571,0.0002493038],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990605,0.0002778016,0.00009664443,0.00002019669,0.0001433389,0.0001765877,0.0001172375,0.000005936111,0.0001018063],"genre_scores_gemma":[0.9990292,0.0002808138,0.0002668901,0.0001066613,0.00002547066,0.00004396639,0.0001448183,0.00002375223,0.00007844944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1042471,"threshold_uncertainty_score":0.6138674,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004323494083765707,"score_gpt":0.2041813964076596,"score_spread":0.1998579023238939,"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."}}