{"id":"W4206116890","doi":"10.1016/j.nmd.2021.07.097","title":"DISTAL MYOPATHIES","year":2021,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"","keywords":"LMNA; Gene isoform; Exon; Genetics; Biology; Myopathy; Nonsense mutation; Phenotype; Alternative splicing; Exon skipping; Gene; Bioinformatics; Missense mutation","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":[0.00003115637,0.00009748933,0.00007238366,0.00001510148,0.00007485678,0.0000239828,0.00007038743,0.00007126084,0.00007944366],"category_scores_gemma":[0.00006056273,0.00009813855,0.0001212853,0.00008163878,0.00004276169,0.000002685658,0.00006830911,0.00006925006,0.00002309842],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002548234,"about_ca_system_score_gemma":0.00002790218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004432279,"about_ca_topic_score_gemma":0.00006166543,"domain_scores_codex":[0.9993514,0.00004902797,0.00007991167,0.0002790578,0.0000968172,0.0001437917],"domain_scores_gemma":[0.9996038,0.000002829732,0.00002063975,0.0002978313,0.00003194248,0.00004293077],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004504242,0.00007663619,0.00695109,0.00002697827,0.00006301219,0.00002405614,0.00004857473,0.00008322503,0.9655878,0.0007576215,0.006127454,0.02020854],"study_design_scores_gemma":[0.0005971005,0.0001988635,0.04984795,0.000004912912,0.00003409991,0.00005253246,0.0001655267,0.00003657272,0.06656917,0.0006704953,0.881527,0.0002957998],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887362,0.0008851793,0.001536732,0.0004337119,0.0004804807,0.00005957496,0.000006387031,0.00002561321,0.007836118],"genre_scores_gemma":[0.9977803,0.0003241465,0.0002101276,0.0006105711,0.0001453482,0.00000465388,0.0001291981,0.00002466,0.0007710361],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8990186,"threshold_uncertainty_score":0.4001974,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002459936182350259,"score_gpt":0.1876902139755284,"score_spread":0.1852302777931781,"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."}}