{"id":"W4404038015","doi":"10.1101/2024.10.30.24315828","title":"Clinical syndromes linked to biallelic germline variants in <i>MCM8</i> and <i>MCM9</i>","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Cancer Research","funders":"","keywords":"Germline; Genetics; Biology; Gene","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":[0.0002490798,0.0006151567,0.0003050693,0.001924046,0.0005351609,0.0006600674,0.0003551235,0.0005704687,0.004125575],"category_scores_gemma":[0.001507004,0.0002064583,0.0002862467,0.00141715,0.0006773662,0.0002159354,0.0008464468,0.0003312524,0.0003956188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002413853,"about_ca_system_score_gemma":0.0002622813,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002327281,"about_ca_topic_score_gemma":0.002553619,"domain_scores_codex":[0.999527,0.00005813171,0.00005689638,0.0002017079,0.00008751973,0.0000686124],"domain_scores_gemma":[0.9993024,0.0001713631,0.0003353251,0.0000383074,0.00003836835,0.0001142567],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001238664,0.00005799924,0.8440781,0.0002170797,0.0002437502,0.07783757,0.0005535865,0.0005353306,0.05912324,0.00107361,0.001457212,0.01358384],"study_design_scores_gemma":[0.0000561664,0.000191799,0.7642924,0.000108589,0.0001830985,0.2248134,0.0004343769,0.0009855451,0.005466502,0.0008908815,0.002547116,0.00003004829],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961714,0.0004120318,0.0006431682,0.00009231406,0.00001037141,0.00002715828,0.0008800848,0.00004789985,0.001715626],"genre_scores_gemma":[0.9985538,0.0001627518,0.0005094415,0.00005663218,0.00001303892,0.000009171491,0.0004784563,0.00001224319,0.0002044384],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004125575,"threshold_uncertainty_score":0.0138014,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02571537050065007,"score_gpt":0.3174492674765118,"score_spread":0.2917338969758617,"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."}}