{"id":"W4394820316","doi":"10.1002/brb3.3437","title":"Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region","year":2024,"lang":"en","type":"article","venue":"Brain and Behavior","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Genome Canada","funders":"","keywords":"Imprinting (psychology); Phenotype; Biology; Genetics; Genomic imprinting; Gene; DNA methylation; 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":[0.0002025454,0.0005900383,0.0003372438,0.001350192,0.0004372285,0.0004358158,0.0003311656,0.0003771855,0.005724363],"category_scores_gemma":[0.0008760664,0.0001670185,0.0002762948,0.0009057239,0.0003973043,0.0002135466,0.0007303763,0.0002844981,0.000473076],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001953362,"about_ca_system_score_gemma":0.0002014768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00235948,"about_ca_topic_score_gemma":0.002741341,"domain_scores_codex":[0.9997236,0.00002367627,0.00002592528,0.0001182169,0.00006032736,0.00004822586],"domain_scores_gemma":[0.9997134,0.00006900504,0.00009356625,0.00002454254,0.00003640498,0.00006315029],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005942448,0.00004728652,0.8751289,0.00009865024,0.00012884,0.04898835,0.0006451582,0.0003584438,0.05435747,0.0004600892,0.0008344833,0.01835816],"study_design_scores_gemma":[0.00002732319,0.0001448256,0.8711944,0.0000654664,0.0001456697,0.1194615,0.0006063075,0.0005070734,0.004730615,0.0006494765,0.002445684,0.00002164743],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969442,0.000314761,0.0005712155,0.00006200275,0.00000525161,0.00001969597,0.0007345129,0.00002960126,0.001318735],"genre_scores_gemma":[0.9983377,0.0002313622,0.0004711009,0.00005026534,0.000005946983,0.000007956613,0.0004306066,0.00001239955,0.000452634],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005724363,"threshold_uncertainty_score":0.0191499,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01116015590087358,"score_gpt":0.2493671151816012,"score_spread":0.2382069592807276,"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."}}