{"id":"W2230656280","doi":"10.1007/s00439-015-1623-9","title":"Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome","year":2016,"lang":"en","type":"article","venue":"Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"National Center for Advancing Translational Sciences; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"DiGeorge syndrome; Copy-number variation; Biology; Genetics; Phenotype; SNP array; Gene; Single-nucleotide polymorphism; Genotype","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":[0.0002737245,0.001046501,0.0004661057,0.002110638,0.0003223335,0.0006607673,0.0005775572,0.001103017,0.004258449],"category_scores_gemma":[0.001892135,0.0003550884,0.0002773008,0.001009676,0.0007050427,0.0003215524,0.0006627991,0.0004730366,0.000589549],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001708589,"about_ca_system_score_gemma":0.0001823857,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006059483,"about_ca_topic_score_gemma":0.0006994408,"domain_scores_codex":[0.9994636,0.00008817088,0.00006077079,0.0001561672,0.0001842398,0.00004703622],"domain_scores_gemma":[0.999208,0.0003015503,0.0002611946,0.00005357522,0.00005077245,0.0001249583],"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":[0.002424085,0.0001447379,0.1828757,0.0003874241,0.0006400105,0.2955058,0.001173081,0.003196483,0.4470101,0.0110602,0.002731249,0.05285113],"study_design_scores_gemma":[0.0002944205,0.0003144587,0.3616503,0.0001071912,0.0006008499,0.5785141,0.0004559043,0.002617605,0.03740815,0.00790289,0.01003404,0.000100116],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901901,0.002980069,0.002443247,0.0004823564,0.0000721634,0.00001487312,0.0006906883,0.0001020134,0.003024515],"genre_scores_gemma":[0.9965842,0.000741973,0.001198498,0.00005715722,0.0001386017,0.00001173121,0.0002622216,0.00002465354,0.0009809972],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004258449,"threshold_uncertainty_score":0.01424593,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01910239115130339,"score_gpt":0.2953312563017643,"score_spread":0.2762288651504609,"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."}}