{"id":"W4412807085","doi":"10.1002/ajmg.a.64204","title":"Identification of a Second‐Hit Brain Somatic <scp> <i>DEPDC5</i> </scp> Variant Supports Causality of a <scp> <i>DEPDC5</i> </scp> Germline Variant of Uncertain Significance. Time for a Classification Update?","year":2025,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotchkiss Brain Institute; Alberta Children's Hospital; University of Saskatchewan; University of Calgary","funders":"Health Canada; Azrieli Foundation; Canada Foundation for Innovation; Epilepsy Canada; Fondation Brain Canada; Canadian Bee Research Fund; Hotchkiss Brain Institute, University of Calgary; Government of Canada; Alberta Children's Hospital Research Institute; Department of Clinical Neurosciences, University of Calgary","keywords":"Germline; Somatic cell; Cortical dysplasia; Epilepsy; Germline mutation; Biology; Germline mosaicism; Genetics; Gene; Mutation; Neuroscience","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007958459,0.0004830139,0.0004382619,0.0008793724,0.0004510136,0.001374905,0.0008529644,0.001873863,0.002736661],"category_scores_gemma":[0.003159318,0.0001737435,0.0004776184,0.0003800502,0.001104753,0.001243326,0.0004775719,0.001457305,0.001082739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005885036,"about_ca_system_score_gemma":0.0005231219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00150351,"about_ca_topic_score_gemma":0.002090528,"domain_scores_codex":[0.9995589,0.00006720736,0.00008011163,0.00009072315,0.0001256938,0.00007743358],"domain_scores_gemma":[0.9979644,0.0006480538,0.0003162559,0.0001639665,0.0006743821,0.0002329693],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001022439,0.0001560512,0.3919551,0.001246606,0.0003625032,0.1547592,0.0006993378,0.000848637,0.09404126,0.007982017,0.04729355,0.2996332],"study_design_scores_gemma":[0.0001834209,0.0008029753,0.2116406,0.001994889,0.0008557464,0.4978269,0.002327667,0.004505469,0.03391844,0.02403297,0.2217358,0.0001751413],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7307279,0.09029787,0.03796775,0.08923691,0.005028966,0.0001981301,0.001785146,0.001176367,0.04358103],"genre_scores_gemma":[0.9578353,0.01498372,0.009989226,0.00981596,0.002969014,0.00001788326,0.001074175,0.00008374712,0.003231061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002736661,"threshold_uncertainty_score":0.009155035,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008216758273383322,"score_gpt":0.2735617341486127,"score_spread":0.2653449758752294,"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."}}