{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002477444,0.0002711187,0.0004042885,0.0006325262,0.00062665,0.000723898,0.0001982218,0.0003970666,0.001170812],"category_scores_gemma":[0.0009049139,0.0001246995,0.0002853941,0.0007643091,0.0002095352,0.0002073731,0.000603443,0.0002660204,0.0002020094],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001670586,"about_ca_system_score_gemma":0.00008899636,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001841861,"about_ca_topic_score_gemma":0.002638223,"domain_scores_codex":[0.999671,0.0000492284,0.00003334056,0.0001746662,0.00004157114,0.0000301479],"domain_scores_gemma":[0.999809,0.00004699166,0.00004339297,0.00002354836,0.00003867686,0.00003844555],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006077273,0.00006160716,0.9369315,0.00004498529,0.0003245315,0.002483115,0.001305321,0.000208862,0.04599675,0.0001264835,0.0005198169,0.01138937],"study_design_scores_gemma":[0.00001249765,0.00006405781,0.9943122,0.000008792988,0.00008081378,0.003024497,0.000367777,0.0004177627,0.0007055756,0.00009254157,0.0009045313,0.000008921011],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992715,0.0001172591,0.0001374028,0.00001848907,0.000001346839,0.000004416145,0.00030018,0.000002922164,0.0001466181],"genre_scores_gemma":[0.9982127,0.000126479,0.0002612082,0.00003609443,0.000005604473,0.00001351859,0.001149363,0.000006796433,0.0001882638],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001841861,"threshold_uncertainty_score":0.00391674,"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."}}