{"id":"W4323364222","doi":"10.3389/fgene.2023.955631","title":"Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders","year":2023,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Genome Canada","funders":"Mohammed Bin Rashid University of Medicine and Health Sciences","keywords":"Copy-number variation; Cohort; Gene; Biology; Variation (astronomy); Genetics; Evolutionary biology; Computational biology; Medicine; Genome; Internal 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002622188,0.0002484899,0.0002477539,0.001134936,0.0006050769,0.000532811,0.000302177,0.0002665742,0.003112794],"category_scores_gemma":[0.001118393,0.0001749249,0.0002177594,0.001059808,0.0002329155,0.000175065,0.000477379,0.000266214,0.0005010756],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003106626,"about_ca_system_score_gemma":0.0002132831,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007173547,"about_ca_topic_score_gemma":0.005048594,"domain_scores_codex":[0.9997438,0.00003117514,0.00002296152,0.0001227618,0.00004279952,0.00003651176],"domain_scores_gemma":[0.9996846,0.00006056226,0.00008916401,0.00005541131,0.00005714562,0.00005318263],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001089312,0.00001470428,0.9898408,0.00001179464,0.00003411369,0.0003605004,0.0003354464,0.00008833908,0.005647385,0.00005230749,0.0001776218,0.003328086],"study_design_scores_gemma":[0.00000594342,0.00005055078,0.9971148,0.000006190797,0.00002060722,0.0009826078,0.0004996263,0.0002654697,0.0004254191,0.00007130863,0.0005510929,0.000006540556],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988054,0.00005693398,0.0001400897,0.00002128283,0.000001288067,0.000008033983,0.0006877836,0.000003110769,0.0002760484],"genre_scores_gemma":[0.9987184,0.00006782523,0.000188025,0.00001256262,0.000002234399,0.00002128727,0.0007541087,0.000003707621,0.0002319146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007173547,"threshold_uncertainty_score":0.01426357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003319532701104765,"score_gpt":0.1903315473278711,"score_spread":0.1870120146267663,"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."}}