{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002213307,0.0002181453,0.0001847862,0.00007216186,0.0002064161,0.00001871055,0.0005038127,0.00008360147,0.00005127729],"category_scores_gemma":[0.0000935832,0.0002137588,0.00009279884,0.0003503644,0.00009769742,0.000002271676,0.000569262,0.0002652046,0.000002597051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002703633,"about_ca_system_score_gemma":0.0001497846,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001865368,"about_ca_topic_score_gemma":0.0002613046,"domain_scores_codex":[0.9981852,0.0002333203,0.000434799,0.0004785487,0.0002734234,0.0003947147],"domain_scores_gemma":[0.9991992,0.00005466799,0.0001708955,0.0004757995,0.00003144852,0.00006795531],"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":[0.0001774554,0.0002042978,0.01013363,0.00001080464,0.00006025417,0.00002368155,0.0009274468,0.0218551,0.963846,0.00004508692,0.0002204468,0.002495826],"study_design_scores_gemma":[0.01306385,0.003306617,0.5145959,0.00008712506,0.000357043,0.000197313,0.006433976,0.01869795,0.3781628,0.005936117,0.05638474,0.002776593],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971513,0.001127115,0.0001218408,0.0002827623,0.0003262867,0.0003062064,0.00008193242,0.00001255488,0.0005899669],"genre_scores_gemma":[0.9979871,0.0005257645,0.0005955346,0.0005766907,0.00001908292,0.00004847145,0.000110045,0.0000594035,0.00007793976],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5856832,"threshold_uncertainty_score":0.8716831,"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."}}