{"id":"W2157171602","doi":"10.1016/j.ajhg.2015.03.007","title":"Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome","year":2015,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health; National Center for Research Resources; National Center for Advancing Translational Sciences; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Copy-number variation; Genetics; Gene; Biology; Gene dosage; Variation (astronomy); Gene expression; 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":[0.0009126472,0.0001173132,0.0002069377,0.00004343891,0.00007826324,0.00002683166,0.0003596384,0.00004124924,0.000006704943],"category_scores_gemma":[0.00005794049,0.00006573047,0.0001013427,0.0002278752,0.0004297578,0.000006000237,0.00007058166,0.0002171347,0.000002001135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002044613,"about_ca_system_score_gemma":0.0001363889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005799725,"about_ca_topic_score_gemma":0.0001199194,"domain_scores_codex":[0.9984983,0.0004681541,0.0003362836,0.0001227496,0.0003824229,0.0001921353],"domain_scores_gemma":[0.9990468,0.00005161159,0.0002375523,0.0003389507,0.0002507007,0.00007440764],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005152889,0.0002356182,0.2136134,0.00002501179,0.0002060862,0.00004395155,0.002988257,0.0003296281,0.7779947,0.00003989003,0.0004346147,0.003573604],"study_design_scores_gemma":[0.001265669,0.003175188,0.9216049,0.00002632055,0.0001395302,0.002484385,0.0009938405,0.00006508,0.06849153,0.0004294253,0.001126833,0.0001973096],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983269,0.0009515631,0.0001070271,0.0002683586,0.00005725455,0.0002084921,0.000007952194,0.000001263648,0.00007116671],"genre_scores_gemma":[0.9993647,0.0001234183,0.0001470528,0.0002130373,0.00009933168,0.000003955664,0.000003680532,0.00001625825,0.00002860565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7095032,"threshold_uncertainty_score":0.2680411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01737124555273372,"score_gpt":0.2885009255508824,"score_spread":0.2711296799981487,"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."}}