{"id":"W3198451447","doi":"10.3390/genes12091352","title":"Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes","year":2021,"lang":"en","type":"article","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of Toronto; Hospital for Sick Children","funders":"Foundation Fighting Blindness; Rare Disease Foundation; BC Children’s Hospital Foundation","keywords":"Missense mutation; Proband; Exome sequencing; Phenotype; Biology; Newborn screening; Genetics; Medical genetics; Compound heterozygosity; Genetic testing; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0000489984,0.00009448198,0.0001171069,0.00003889651,0.00006379205,0.00002307733,0.00001973807,0.00004300045,0.00001535534],"category_scores_gemma":[0.00004343171,0.0001015601,0.000027119,0.00005765311,0.00003613945,0.000005016112,0.0001000564,0.00002391587,2.972403e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008304105,"about_ca_system_score_gemma":0.00004679223,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004400601,"about_ca_topic_score_gemma":0.00003513078,"domain_scores_codex":[0.9993171,0.00004226501,0.0001787901,0.0002680193,0.00006728982,0.0001265465],"domain_scores_gemma":[0.9997042,0.00001657118,0.00005698907,0.0001113169,0.00006842286,0.00004243855],"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":[0.0000446042,0.00006551277,0.04825059,0.00009125841,0.00005422729,0.00001482783,0.0002555958,0.001244424,0.9175369,0.00004908678,0.00001372267,0.03237932],"study_design_scores_gemma":[0.0005880776,0.00006272834,0.8715581,0.0000599521,0.00003691659,0.00003104852,0.0004394544,0.00103079,0.1248899,0.000379672,0.0007082696,0.0002151053],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905863,0.008234247,0.000907466,0.00003134465,0.00007472303,0.00008051825,0.00004221834,0.000003152906,0.00004006324],"genre_scores_gemma":[0.9971492,0.001241041,0.001396545,0.00004970735,0.00004450958,0.00001444755,0.00008245272,0.000008986449,0.000013107],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8233076,"threshold_uncertainty_score":0.4141499,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02603374198719171,"score_gpt":0.2304140359143731,"score_spread":0.2043802939271814,"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."}}