{"id":"W4289711247","doi":"10.1007/s10048-022-00697-2","title":"A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders","year":2022,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke; McGill University Health Centre; McGill University","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Oncode Institute","keywords":"Phenotype; Cockayne syndrome; Genetics; Biology; Human genetics; Exome sequencing; Gene; DNA repair; Nucleotide excision repair","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":[0.0001651481,0.001276923,0.0005685884,0.0009571759,0.0007120717,0.0005327295,0.0005979631,0.002090384,0.003826221],"category_scores_gemma":[0.0009405593,0.0002295665,0.0004741468,0.0005330581,0.0009160531,0.0002498183,0.0007825039,0.001372778,0.0006934131],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003257624,"about_ca_system_score_gemma":0.0003115002,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001637042,"about_ca_topic_score_gemma":0.002187141,"domain_scores_codex":[0.9997527,0.00002474788,0.00002536964,0.00007967788,0.00007046585,0.00004706872],"domain_scores_gemma":[0.9991898,0.0002740202,0.0001651196,0.00005191376,0.00004953995,0.0002695759],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005886504,0.0001142296,0.01131624,0.0001214296,0.00009963337,0.7102925,0.0003419852,0.0005259624,0.2651581,0.001847692,0.001220985,0.008372515],"study_design_scores_gemma":[0.00009797131,0.0002600155,0.06387445,0.0000581985,0.0001301187,0.8857322,0.0001848381,0.002043519,0.04156413,0.001016538,0.004971822,0.00006626454],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890898,0.0006375299,0.002970331,0.000858645,0.0001929993,0.00006071856,0.0006584816,0.0002271501,0.005304345],"genre_scores_gemma":[0.9954977,0.0001861516,0.001970745,0.0002034956,0.0001047941,0.00001158375,0.0001973457,0.00006777215,0.001760368],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003826221,"threshold_uncertainty_score":0.01280004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008284074414742578,"score_gpt":0.2251194558779454,"score_spread":0.2168353814632028,"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."}}