{"id":"W4292857500","doi":"10.1016/j.gim.2022.07.013","title":"A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"Medical Research Council; Rosetrees Trust; National Institute for Health and Care Research; Brain Research UK; University College London; Wellcome Trust","keywords":"Neurodegeneration; Exome sequencing; Biology; Zebrafish; Phenotype; Microcephaly; Loss function; Genetics; Protein subunit; Disease; CRISPR; Medicine; Neuroscience; Gene; Pathology","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":[0.0002047543,0.001506004,0.0005011814,0.0006619198,0.0005710517,0.0002398567,0.0003587855,0.001167353,0.002416608],"category_scores_gemma":[0.0003720857,0.0002105186,0.0004280134,0.000369842,0.0007254584,0.0001327772,0.0005789108,0.0005001351,0.0007316704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003350312,"about_ca_system_score_gemma":0.0002425305,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007988567,"about_ca_topic_score_gemma":0.001509805,"domain_scores_codex":[0.9997686,0.00002495122,0.00003699524,0.00009801832,0.00004657103,0.00002494016],"domain_scores_gemma":[0.9997831,0.00005625383,0.00008467078,0.00001432614,0.00001483023,0.00004695461],"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":[0.0006430199,0.0001823924,0.04937912,0.0001755498,0.0002230215,0.2407991,0.0004657829,0.0006161421,0.6959506,0.0005733379,0.0009863799,0.01000554],"study_design_scores_gemma":[0.0001575272,0.001259935,0.2764262,0.0001082764,0.000529847,0.5637302,0.0005477396,0.003090608,0.1461873,0.0007802844,0.007079032,0.0001029694],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996772,0.0002451936,0.001371943,0.0001254632,0.00002592944,0.00003260047,0.0003991727,0.0001074596,0.000920251],"genre_scores_gemma":[0.9974394,0.000132804,0.00120046,0.00008881727,0.00002277121,0.00001237156,0.0002810838,0.00002120283,0.0008010748],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002416608,"threshold_uncertainty_score":0.008084357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01495320093237464,"score_gpt":0.2697262741900723,"score_spread":0.2547730732576977,"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."}}