{"id":"W4393970297","doi":"10.1016/j.nmd.2024.04.001","title":"A novel deep intronic variant in LAMA2 identified by RNA sequencing","year":2024,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; BC Children's Hospital","funders":"","keywords":"Transcriptome; Genetics; RNA; Biology; Exome sequencing; Muscular dystrophy; Phenotype; Medicine; Bioinformatics; Molecular biology; Gene; Gene expression","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":[0.0002639631,0.0001689295,0.0001305758,0.000109951,0.00005932928,0.000115514,0.0002484582,0.0001125555,0.0000309531],"category_scores_gemma":[0.0001242706,0.0001660973,0.0001309776,0.0002588247,0.00005647765,0.00001140091,0.0001216009,0.000258092,0.00002965288],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004623078,"about_ca_system_score_gemma":0.0001310505,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003324307,"about_ca_topic_score_gemma":0.0009095191,"domain_scores_codex":[0.9985155,0.0000709402,0.0002037427,0.0005368649,0.0002197536,0.000453161],"domain_scores_gemma":[0.9995111,0.00001859241,0.00002111042,0.000334517,0.00001912,0.00009561329],"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":[0.00001970228,0.00003910295,0.0001015372,0.00005594544,0.00004283017,0.00005175378,0.00005202494,0.0003903057,0.9919026,0.0001686053,0.0008239084,0.006351606],"study_design_scores_gemma":[0.01152713,0.002499591,0.00969701,0.0007156948,0.0002442357,0.0006303687,0.002264983,0.2168196,0.4148338,0.003038745,0.3333357,0.00439311],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9769729,0.004775281,0.01642449,0.0005240618,0.0002182858,0.0002505266,0.00001101557,0.00003541731,0.000787982],"genre_scores_gemma":[0.997681,0.0008601591,0.000130441,0.0002093243,0.00007072619,0.0000417874,0.00008880824,0.00004668548,0.0008710188],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5770689,"threshold_uncertainty_score":0.6773252,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007658864829908967,"score_gpt":0.2465734584954687,"score_spread":0.2389145936655597,"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."}}