{"id":"W2396539565","doi":"10.1111/cge.12810","title":"Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population","year":2016,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; Women's College Hospital; University of Toronto","funders":"","keywords":"Exome sequencing; Exome; Genetic heterogeneity; Genetics; Medicine; Consanguinity; Sanger sequencing; Bioinformatics; Phenotype; Biology; DNA sequencing; Gene","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":[0.00155969,0.0004453891,0.000400207,0.0009812873,0.0002762298,0.0006785648,0.0002240931,0.0003918449,0.001478425],"category_scores_gemma":[0.004480865,0.0001290149,0.000233914,0.0005141121,0.0001958996,0.000313848,0.0006331921,0.0003017235,0.0003789118],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001103891,"about_ca_system_score_gemma":0.0001507661,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007842836,"about_ca_topic_score_gemma":0.001045878,"domain_scores_codex":[0.999052,0.0003761665,0.00007739579,0.0002430329,0.0001754525,0.00007591808],"domain_scores_gemma":[0.9986041,0.0007882817,0.0001587336,0.0001236598,0.0002409861,0.00008427055],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005955649,0.00008470623,0.8571635,0.0002045637,0.0002995251,0.00585686,0.0007068241,0.0008235291,0.05569118,0.0003543847,0.001187202,0.07703222],"study_design_scores_gemma":[0.00004553907,0.0003958003,0.9359726,0.0001363537,0.0004423874,0.0228129,0.0008677494,0.006386224,0.02252255,0.001470349,0.008903167,0.00004437171],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884806,0.002937161,0.005625742,0.0002664754,0.00004251888,0.00002282277,0.0006421225,0.00007023689,0.001912331],"genre_scores_gemma":[0.9964045,0.0005502006,0.002173536,0.00008200553,0.00001929824,0.000009894099,0.0005415481,0.00001267223,0.0002064493],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00155969,"threshold_uncertainty_score":0.008248508,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02775637740299693,"score_gpt":0.3042335235577956,"score_spread":0.2764771461547987,"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."}}