{"id":"W2222710573","doi":"10.1534/g3.115.020321","title":"Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing","year":2015,"lang":"en","type":"article","venue":"G3 Genes Genomes Genetics","topic":"Moyamoya disease diagnosis and treatment","field":"Medicine","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"National Human Genome Research Institute","keywords":"Founder effect; Exome sequencing; Genetics; Exome; Mutation; Penetrance; Moyamoya disease; Population; Biology; Etiology; Medicine; Haplotype; Pathology; Gene; Internal medicine; Genotype; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001470581,0.0002224964,0.0004342602,0.0001271722,0.00003457153,0.000007600952,0.0001036746,0.00008460403,0.00008091238],"category_scores_gemma":[0.00002247762,0.0001934876,0.0001673232,0.0001777709,0.00003346906,0.0000332711,0.00008106536,0.00005146951,0.00001157773],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001201297,"about_ca_system_score_gemma":0.0001961717,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006496956,"about_ca_topic_score_gemma":0.00001629274,"domain_scores_codex":[0.9982858,0.00006260272,0.0005224489,0.0003141565,0.0005155357,0.0002994078],"domain_scores_gemma":[0.9983872,0.00003093404,0.000258215,0.0005007515,0.0003264254,0.0004965352],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002007606,0.001165309,0.9414968,0.0002600649,0.0001866159,0.00001559783,0.0004743966,0.000472258,0.001054004,0.00002041198,0.0006457003,0.05400801],"study_design_scores_gemma":[0.01053822,0.001279638,0.9640307,0.0002140446,0.001531753,0.000005459801,0.0004344788,0.004447815,0.006467965,0.0002213357,0.0102915,0.0005371122],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7914249,0.2069787,0.00006261909,0.00003899568,0.0001561614,0.0005428129,0.0006394486,0.00001985834,0.0001364998],"genre_scores_gemma":[0.9886394,0.008954231,0.001034059,0.00009502372,0.00008067658,0.00004651933,0.0009816395,0.00003862792,0.0001297858],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1980244,"threshold_uncertainty_score":0.7890196,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02623355868544847,"score_gpt":0.2780559979069296,"score_spread":0.2518224392214811,"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."}}