{"id":"W2105937239","doi":"10.1136/jmg.39.11.e71","title":"Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis","year":2002,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Haploinsufficiency; Genetics; Biology; Phenotype; DiGeorge syndrome; Epigenetics; Gene; Microdeletion syndrome; Chromosome; Copy-number variation; Chromosome 22; Monozygotic twin; 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":[0.001661879,0.0003302654,0.0008068833,0.001865011,0.0004402095,0.001034782,0.001149655,0.001976102,0.001440493],"category_scores_gemma":[0.00465219,0.0003597359,0.0004133427,0.00104203,0.002433706,0.001324826,0.0009560037,0.001332384,0.0003794207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004303408,"about_ca_system_score_gemma":0.0003255153,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006354898,"about_ca_topic_score_gemma":0.00067279,"domain_scores_codex":[0.999246,0.0001855325,0.0001566619,0.0001692016,0.000152053,0.00009059621],"domain_scores_gemma":[0.9978063,0.001473416,0.0003355689,0.0001130621,0.000178673,0.00009302473],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0006210567,0.0003502728,0.1208899,0.003123304,0.0006953452,0.3401144,0.005532695,0.0003354354,0.006113824,0.05020991,0.02509744,0.4469164],"study_design_scores_gemma":[0.00008422056,0.0002030423,0.06079848,0.001521473,0.0005704855,0.7956767,0.002069253,0.0005549476,0.002033856,0.01707303,0.1192986,0.0001158646],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.3336005,0.5622261,0.01100344,0.04063456,0.006022737,0.0001783727,0.0004151496,0.0001921045,0.04572706],"genre_scores_gemma":[0.6569372,0.2951353,0.006758412,0.01219339,0.02325585,0.0001331801,0.0002721763,0.00006886132,0.005245613],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.001976102,"threshold_uncertainty_score":0.008789003,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04139089374080376,"score_gpt":0.3234287723729934,"score_spread":0.2820378786321897,"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."}}