{"id":"W2144729680","doi":"10.1093/hmg/ddt282","title":"Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; Muscular Dystrophy Association; Natural Sciences and Engineering Research Council of Canada; National Institutes of Health; Multiple Sclerosis Society; National Multiple Sclerosis Society","keywords":"Sanger sequencing; Biology; Genetics; Exome sequencing; Spinocerebellar ataxia; Missense mutation; Exome; dbSNP; Ataxia; Mutation; 1000 Genomes Project; Gene; Genotype; Single-nucleotide polymorphism; Neuroscience","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001260621,0.0002565106,0.000289693,0.0002743334,0.00009542566,0.00009658076,0.0003124639,0.00007497751,0.00007231268],"category_scores_gemma":[0.0002215592,0.0002559599,0.00008043019,0.0004916282,0.000195879,0.00008702683,0.00006692035,0.0001317647,0.00005313901],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006637209,"about_ca_system_score_gemma":0.0001153349,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005753637,"about_ca_topic_score_gemma":0.00002798743,"domain_scores_codex":[0.99748,0.0003270537,0.0006575324,0.0006678603,0.0005337714,0.0003337735],"domain_scores_gemma":[0.998592,0.00004454196,0.0003666291,0.0006665487,0.0002089713,0.0001212602],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0000157731,0.00007903932,0.0007423862,0.00004740578,0.000006924336,0.0001094463,0.0004548098,0.008415727,0.9896665,0.0002617975,0.00001332614,0.0001868277],"study_design_scores_gemma":[0.0007799203,0.0001614972,0.06673709,0.00003818667,0.00003523786,0.00003497865,0.0001056218,0.003343422,0.927456,0.001052861,0.000006879469,0.000248368],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964201,0.0001795173,0.00206036,0.00006575914,0.00004816119,0.001053968,0.0000119343,0.00003791347,0.0001222639],"genre_scores_gemma":[0.9982883,0.00002008502,0.00116837,0.0002365535,0.00001938695,0.00009624939,0.00001942112,0.00005640439,0.00009524423],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0659947,"threshold_uncertainty_score":0.9999893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03031095599016513,"score_gpt":0.2658157514199316,"score_spread":0.2355047954297664,"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."}}