{"id":"W2088906306","doi":"10.1002/mgg3.12","title":"Prevalence of selected genomic deletions and duplications in a <scp>F</scp>rench–<scp>C</scp>anadian population‐based sample of newborns","year":2013,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Child and Family Research Institute; Hôpital Saint-François d'Assise; University of British Columbia","funders":"Canadian Institutes of Health Research; Centre Hospitalier Universitaire de Québec; Ministère de la Santé et des Services sociaux","keywords":"Autism; Copy-number variation; Genetics; Gene duplication; Phenotype; Biology; Population; Intellectual disability; Epilepsy; Segmental duplication; Genome; Medicine; Gene; Psychiatry; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000216655,0.0002871795,0.0003813248,0.0002930184,0.00008047331,0.00001577228,0.0003545596,0.0002086398,0.00005129394],"category_scores_gemma":[0.0007476177,0.0003032156,0.00008106729,0.0003752768,0.0002168483,0.000007350954,0.0001213902,0.0001272774,0.000006561434],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005730216,"about_ca_system_score_gemma":0.0002724362,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00240805,"about_ca_topic_score_gemma":0.0004608562,"domain_scores_codex":[0.9979565,0.0001336817,0.0007891794,0.000501752,0.0001998856,0.0004189911],"domain_scores_gemma":[0.9982098,0.0001983822,0.0003515454,0.000688857,0.00033516,0.000216273],"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":[0.000002441818,0.00007794308,0.1260287,0.0001491071,0.00006674142,0.000001209853,0.0006179215,0.002977903,0.8690602,0.0003620106,0.0003673619,0.0002885413],"study_design_scores_gemma":[0.001274425,0.0004562047,0.9038994,0.00007388753,0.0001607493,0.00001898811,0.0005797371,0.001812775,0.08701751,0.0008769134,0.003705231,0.0001241881],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9838173,0.005125808,0.00960527,0.0001899124,0.00006197089,0.0007251485,0.0001957957,0.00001143556,0.0002672931],"genre_scores_gemma":[0.9898394,0.0007867073,0.008060165,0.0001943243,0.00008509227,0.0001137201,0.0005816491,0.00004566104,0.000293229],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7820426,"threshold_uncertainty_score":0.999942,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00725877930376386,"score_gpt":0.2160930609092626,"score_spread":0.2088342816054987,"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."}}