{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001419172,0.00009394953,0.0001012406,0.00001931518,0.0004997044,0.0001653724,0.001174885,0.0001146122,0.00006688941],"category_scores_gemma":[0.0002002268,0.00009224131,0.00004532853,0.00001716953,0.0001987346,0.000008608195,0.001516841,0.00015353,0.0001579324],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002538537,"about_ca_system_score_gemma":0.00003517756,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005153173,"about_ca_topic_score_gemma":0.0001865126,"domain_scores_codex":[0.9991325,0.0000590638,0.0000938135,0.0004264485,0.00006010086,0.0002280854],"domain_scores_gemma":[0.9986438,0.00000869639,0.00005491322,0.001175327,0.00003991167,0.00007738998],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009281488,0.0002185833,0.08105875,0.00002129986,0.00007953108,0.00005618368,0.00002563452,0.000003574504,0.8416921,0.000691588,0.02025883,0.05496575],"study_design_scores_gemma":[0.0008078867,0.0005005943,0.3273607,0.000003057957,0.000007403426,0.0001733501,0.000001291489,0.00002636688,0.1595131,0.0001326743,0.5112926,0.0001809251],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9457035,0.0001295746,0.00002275609,0.009142603,0.0001356207,0.0004159336,0.00001685106,0.000007562469,0.04442558],"genre_scores_gemma":[0.9952971,0.00004385606,0.0000258022,0.001525646,0.0002054907,0.00003947111,0.00006579368,0.00001914009,0.002777708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.682179,"threshold_uncertainty_score":0.3843373,"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."}}