{"id":"W2011076705","doi":"10.1007/s100380170060","title":"The genomic structure and expression of MJD, the Machado-Joseph disease gene","year":2001,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":81,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal General Hospital","funders":"Core Research for Evolutional Science and Technology; RIKEN; Japan Society for the Promotion of Science; Japan Science and Technology Corporation","keywords":"Machado–Joseph disease; Biology; Genetics; Exon; Polyadenylation; Cosmid; Contig; cDNA library; Alternative splicing; Gene; Molecular biology; RNA splicing; Complementary DNA; Gene expression; Spinocerebellar ataxia; Genome","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":[0.0000535516,0.0001172073,0.0001877673,0.0004426577,0.0002904096,0.0003348613,0.0001758574,0.0003350098,0.0007020322],"category_scores_gemma":[0.0002821661,0.0001745239,0.0001287913,0.0001957729,0.0003346976,0.0001408518,0.0002726647,0.0004940489,0.0002412777],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002541966,"about_ca_system_score_gemma":0.0001456642,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009194892,"about_ca_topic_score_gemma":0.00156307,"domain_scores_codex":[0.9999146,0.000008285626,0.000006555413,0.00003156318,0.00002480404,0.00001415855],"domain_scores_gemma":[0.9998745,0.00003117136,0.00004675723,0.00001397733,0.0000105305,0.00002317622],"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":[0.000234952,0.00002786777,0.004130802,0.00004314978,0.00001402397,0.0009021649,0.000155125,0.0002300554,0.9881173,0.001051898,0.000151818,0.004940793],"study_design_scores_gemma":[0.0001135781,0.0005216576,0.5153646,0.0000410044,0.0001724679,0.01575737,0.0006013566,0.003555902,0.4412732,0.004103638,0.0184418,0.00005341891],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963399,0.001269148,0.0007967119,0.0001132493,0.000009847089,0.0000070378,0.0003124766,0.00001948737,0.001132199],"genre_scores_gemma":[0.9971843,0.000343029,0.0008662302,0.00004881887,0.00001035957,0.00000559317,0.0004706536,0.00001182212,0.001059136],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009194892,"threshold_uncertainty_score":0.002348483,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02483056482970759,"score_gpt":0.2741955010463086,"score_spread":0.249364936216601,"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."}}