{"id":"W2765773037","doi":"10.1177/2329048x17737651","title":"Distal 22q11.2 Microduplication","year":2017,"lang":"en","type":"article","venue":"Child Neurology Open","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Genetics; Proband; Phenotype; Biology; Gene duplication; Chromosome; Copy-number variation; Expressivity; Genetic counseling; Speech delay; Gene; Mutation; Genome","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":[0.00009124063,0.0008307224,0.0005022201,0.0009932588,0.0002815035,0.0003099736,0.0003044469,0.0005028683,0.001764868],"category_scores_gemma":[0.0008978337,0.0001874831,0.0001927862,0.0004811048,0.0003805905,0.0001818646,0.0003703299,0.0004072894,0.0006469557],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001843643,"about_ca_system_score_gemma":0.0001375607,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005472088,"about_ca_topic_score_gemma":0.0008155886,"domain_scores_codex":[0.9998429,0.00002075825,0.00001604474,0.00005824232,0.00003245909,0.00002952957],"domain_scores_gemma":[0.9996707,0.0001157977,0.0001169948,0.00001705199,0.00002714088,0.00005227906],"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":[0.0004496463,0.00006938481,0.1453212,0.0003444783,0.000189911,0.684388,0.0007040246,0.0006450218,0.0816839,0.001582666,0.005072522,0.07954919],"study_design_scores_gemma":[0.00002141689,0.0001745761,0.09233256,0.00003188902,0.000101778,0.8875821,0.0001153534,0.0002173874,0.007823489,0.0003948954,0.01118307,0.00002151216],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9642108,0.02185382,0.004651031,0.0007575972,0.0001958314,0.00005762333,0.0006829011,0.0004090453,0.00718129],"genre_scores_gemma":[0.9915681,0.003918824,0.00121859,0.0001595603,0.0001619264,0.00001550625,0.0003269459,0.00002026624,0.002610238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001764868,"threshold_uncertainty_score":0.005904078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02208708464436716,"score_gpt":0.3396263319211128,"score_spread":0.3175392472767457,"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."}}