{"id":"W3200029891","doi":"10.1093/hmg/ddab247","title":"Compound heterozygous variants in <i>SHQ1</i> are associated with a spectrum of neurological features, including early-onset dystonia","year":2021,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; Children's Hospital of Eastern Ontario; University of Manitoba; Université du Québec à Montréal","funders":"Canadian Institutes of Health Research","keywords":"Biology; Dystonia; Compound heterozygosity; Genetics; Ribosome biogenesis; Small nucleolar RNA; Phenotype; Ribonucleoprotein; Neurodegeneration; Bioinformatics; Disease; Neuroscience; Ribosome; Non-coding RNA; RNA; Pathology; Gene; Medicine","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":[0.0002427764,0.001699948,0.0006076907,0.0008980279,0.0007280265,0.0002979042,0.0004093975,0.0009211035,0.003683638],"category_scores_gemma":[0.0007213345,0.0002400869,0.0003792443,0.0005090893,0.0007435023,0.0001901936,0.0005763252,0.000569616,0.0003709785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002977736,"about_ca_system_score_gemma":0.0002221245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001472197,"about_ca_topic_score_gemma":0.002128962,"domain_scores_codex":[0.9996019,0.00004670719,0.00004995614,0.000150001,0.0001009152,0.00005057924],"domain_scores_gemma":[0.999587,0.0001335362,0.000148988,0.00002098253,0.00002803604,0.00008151498],"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":[0.001703201,0.0003108454,0.1405581,0.0002693783,0.0004331372,0.3444194,0.002172475,0.0005699525,0.4810399,0.001718554,0.002042704,0.02476226],"study_design_scores_gemma":[0.0002303517,0.001486718,0.3918574,0.00007400192,0.0002923216,0.5278799,0.0007136504,0.001374084,0.06797199,0.00109613,0.006916442,0.0001071189],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960975,0.0004691893,0.001223127,0.0002398769,0.00003984665,0.00004541205,0.0005401091,0.00004536123,0.001299527],"genre_scores_gemma":[0.9977152,0.0002117298,0.0007980323,0.0001029201,0.00004028016,0.00001295821,0.0003154075,0.00001985076,0.0007835992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003683638,"threshold_uncertainty_score":0.01232296,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01797781931788266,"score_gpt":0.2676666226789582,"score_spread":0.2496888033610756,"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."}}