{"id":"W2982341411","doi":"10.1002/ajmg.a.61342","title":"Duplication 2p16 is associated with perisylvian polymicrogyria","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University Health Centre; Douglas Mental Health University Institute; McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Polymicrogyria; Gene duplication; Locus (genetics); Biology; Genetics; Haploinsufficiency; Gene; Neuroscience; Epilepsy; Phenotype","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":[0.0001424477,0.001120585,0.0005121097,0.001600487,0.000479573,0.0003145483,0.000463245,0.0009790661,0.00306722],"category_scores_gemma":[0.0009529332,0.0004163492,0.0003362726,0.001247403,0.0009532311,0.0002179676,0.0007474889,0.0006832555,0.0004211439],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003280587,"about_ca_system_score_gemma":0.0003893707,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001096337,"about_ca_topic_score_gemma":0.00126208,"domain_scores_codex":[0.9996896,0.00004555925,0.00003123064,0.0001146473,0.00006309786,0.0000559701],"domain_scores_gemma":[0.9992746,0.0002059724,0.0003128099,0.00004863159,0.00002269153,0.0001354059],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001661701,0.0001630297,0.3626417,0.0002921234,0.0002365047,0.3148135,0.001368215,0.001608855,0.2911736,0.001654743,0.0008456589,0.02354042],"study_design_scores_gemma":[0.000200068,0.0004209784,0.5351658,0.00008252415,0.000172898,0.4338463,0.000289274,0.0009500017,0.02555268,0.0008920577,0.002379451,0.00004805408],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998724,0.000186554,0.0004015328,0.00007663808,0.000005901167,0.00001258344,0.0001506917,0.00002495693,0.0004171134],"genre_scores_gemma":[0.9986883,0.0001754476,0.0005942958,0.00002329657,0.00001791538,0.0000153145,0.0001705385,0.00001056171,0.0003044388],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00306722,"threshold_uncertainty_score":0.01026088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004724297818968426,"score_gpt":0.2271632045927032,"score_spread":0.2224389067737347,"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."}}