{"id":"W2947815020","doi":"10.1002/ajmg.a.61155","title":"16q22.1 microdeletion and anticipatory guidance","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":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; Queen's University","funders":"","keywords":"Microdeletion syndrome; Comparative genomic hybridization; Medicine; Phenotype; Bioinformatics; Genetics; Biology; Gene; Chromosome","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":[0.0001780252,0.0004047806,0.0002715673,0.0005482963,0.0005408772,0.0005640558,0.0003868044,0.001324834,0.002030694],"category_scores_gemma":[0.002357567,0.0001568749,0.0001765228,0.0003073543,0.0008465081,0.0003110179,0.0004795883,0.0009138711,0.0001957036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004429967,"about_ca_system_score_gemma":0.0007315857,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002720375,"about_ca_topic_score_gemma":0.00221565,"domain_scores_codex":[0.9997787,0.00002891183,0.00001748945,0.00006131805,0.00004736773,0.0000662692],"domain_scores_gemma":[0.9992154,0.0002546065,0.0003052008,0.00004363146,0.00004144087,0.0001397604],"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":[0.0004408753,0.0001148296,0.1758826,0.0001170087,0.0000475808,0.6792161,0.001607082,0.003110699,0.04502687,0.01647209,0.003776266,0.07418796],"study_design_scores_gemma":[0.00007027842,0.0003040799,0.05422343,0.00008152626,0.0000660771,0.9104329,0.0004443455,0.004035261,0.01454715,0.005028424,0.01070893,0.00005762505],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9765776,0.002162644,0.006794966,0.003206375,0.000125153,0.00003564581,0.0001280994,0.0002828802,0.01068661],"genre_scores_gemma":[0.9954816,0.0004710155,0.001883873,0.0001736525,0.00004657796,0.000007786572,0.00004143784,0.00001227095,0.001881926],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002720375,"threshold_uncertainty_score":0.00679338,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005892655683995619,"score_gpt":0.246833492145532,"score_spread":0.2409408364615364,"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."}}