{"id":"W2901254787","doi":"10.1093/hmg/ddy391","title":"Clinical and functional characterization of recurrent missense variants implicated in<i>THOC6</i>-related intellectual disability","year":2018,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Alberta Children's Hospital; Children's Hospital of Eastern Ontario","funders":"Agence Nationale de la Recherche; Fondation Maladies Rares","keywords":"Biology; Missense mutation; Genetics; Intellectual disability; Gene; Mutation","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":[0.000177506,0.0007047937,0.0003508338,0.00067895,0.0003592244,0.0002928408,0.0003001484,0.0006556542,0.001381212],"category_scores_gemma":[0.000919159,0.0001513897,0.000318797,0.0003868625,0.0004601627,0.0001250386,0.0003343229,0.0002944749,0.0002398519],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001163322,"about_ca_system_score_gemma":0.0001310758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001501064,"about_ca_topic_score_gemma":0.000817134,"domain_scores_codex":[0.9997466,0.00003116875,0.00003766405,0.00008783508,0.00004411347,0.00005261294],"domain_scores_gemma":[0.9994774,0.0001436161,0.0001649945,0.00003057626,0.00004184049,0.0001415936],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001299358,0.0002343346,0.5839933,0.00009559779,0.0001744902,0.2090367,0.001475498,0.0005238634,0.1897858,0.000388742,0.0005341402,0.01245824],"study_design_scores_gemma":[0.00005922585,0.0007542507,0.7587662,0.00002296434,0.0001169058,0.2263238,0.0003985894,0.000811773,0.01113674,0.0001800575,0.001396269,0.00003304784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992083,0.00007528821,0.0001835658,0.00002184494,0.000005011563,0.00000771074,0.00009764078,0.000007025698,0.0003937076],"genre_scores_gemma":[0.9994488,0.00004149564,0.000189504,0.0000254755,0.00001186093,0.000003662402,0.0001185558,0.000007141364,0.0001533636],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001501064,"threshold_uncertainty_score":0.004620612,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02366502884440257,"score_gpt":0.2885442235120065,"score_spread":0.2648791946676039,"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."}}