{"id":"W2254618417","doi":"10.1038/srep10566","title":"A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition","year":2015,"lang":"en","type":"article","venue":"Scientific Reports","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":113,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Cancer Institute; University of Toronto; Lerner Research Institute, Cleveland Clinic; Research Institute, Nationwide Children's Hospital; Nationwide Children's Hospital; Cleveland Clinic","keywords":"Genetics; Exon; Biology; Missense mutation; RNA splicing; Germline mutation; Mutation; Exon skipping; Exome; Gene; Alternative splicing; Haplotype; Exome sequencing; Allele; RNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002190257,0.0003896829,0.0002508065,0.0005629022,0.0002988222,0.0002224957,0.0001824788,0.0003963074,0.001621359],"category_scores_gemma":[0.0005588226,0.0001348176,0.0002960271,0.0004285367,0.0002219818,0.00008929134,0.0002008781,0.0002295483,0.000333492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001042622,"about_ca_system_score_gemma":0.0001216185,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006585961,"about_ca_topic_score_gemma":0.0007008901,"domain_scores_codex":[0.9997795,0.0000296494,0.00001585539,0.00008525435,0.00006982953,0.00001992111],"domain_scores_gemma":[0.9997669,0.00008211568,0.00008669928,0.00001576376,0.00001905273,0.0000295135],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006778091,0.00008414015,0.2761064,0.0001582152,0.0002656912,0.01570825,0.0003835499,0.000380774,0.6777676,0.0003411522,0.0005697729,0.02755667],"study_design_scores_gemma":[0.00004682577,0.0003622156,0.8472416,0.00003450434,0.0003593913,0.04896384,0.0002831355,0.002874197,0.09464759,0.0005539454,0.004602291,0.00003050055],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973579,0.0007585356,0.001174278,0.00005285593,0.00001236383,0.000005770081,0.0001890125,0.00004961606,0.0003996807],"genre_scores_gemma":[0.9982409,0.000294859,0.0009341218,0.00002289279,0.00001459434,0.000003762298,0.0001961986,0.00001078713,0.0002818148],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001621359,"threshold_uncertainty_score":0.005424023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01921346076018114,"score_gpt":0.2812424280123775,"score_spread":0.2620289672521963,"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."}}