{"id":"W2415344127","doi":"10.1002/ccr3.591","title":"Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication","year":2016,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; McMaster University; McMaster Children's Hospital","funders":"Hospital for Sick Children","keywords":"Medicine; Candidate gene; Gene duplication; Exome sequencing; Heterotopia (medicine); Comparative genomic hybridization; Copy-number variation; Microarray; Chromosomal translocation; Rare disease; Epilepsy; Disease; Bioinformatics; Pathology; Gene; Genetics; Chromosome; Biology; Phenotype; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002559347,0.001025513,0.0005149973,0.0008568002,0.000396867,0.0004685071,0.0005196133,0.001241624,0.003485787],"category_scores_gemma":[0.001967309,0.0003694533,0.0002971947,0.0005099339,0.0007287991,0.0005177218,0.0006154517,0.0008741598,0.0004802279],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003557095,"about_ca_system_score_gemma":0.0003150044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001037704,"about_ca_topic_score_gemma":0.001293702,"domain_scores_codex":[0.9997639,0.00004534343,0.00002752092,0.000055497,0.00004976679,0.00005795024],"domain_scores_gemma":[0.9993719,0.0002041639,0.0002179241,0.00003983416,0.00002704968,0.0001391904],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001393145,0.00004751921,0.03973696,0.00005576254,0.00002264831,0.9471636,0.0001466822,0.0001470057,0.00585965,0.000645813,0.0004536484,0.005581331],"study_design_scores_gemma":[0.00001545731,0.0000403909,0.01826068,0.00001111975,0.00001339398,0.9798227,0.00005336879,0.0001473265,0.0008835176,0.0002582602,0.0004874238,0.000006339288],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.985234,0.001348895,0.002911653,0.0009592935,0.00006645865,0.00007327915,0.0002133817,0.0000849169,0.009108093],"genre_scores_gemma":[0.9954916,0.0006544604,0.002017895,0.0002238888,0.0001554852,0.00002588994,0.0001935172,0.00001267493,0.001224645],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003485787,"threshold_uncertainty_score":0.01166117,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01930585857558375,"score_gpt":0.2964888530276599,"score_spread":0.2771829944520761,"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."}}