{"id":"W2807310734","doi":"10.1186/s12881-018-0616-7","title":"PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells","year":2018,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Cegep Edouard Montpetit; Montreal Heart Institute","funders":"Institute of Genetics; Canadian Institutes of Health Research; Fondation Institut de Cardiologie de Montréal; Institut universitaire de cardiologie et de pneumologie de Québec, Université Laval; Institut de Cardiologie de Montréal; Canada Excellence Research Chairs, Government of Canada; McGill University","keywords":"Biology; Alternative splicing; RNA splicing; Exon; Expression quantitative trait loci; Genetics; Human genome; Gene; Genome; RNA; Single-nucleotide polymorphism","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002131594,0.0001197135,0.0001160536,0.00003346446,0.00006700337,0.00002004574,0.0001396676,0.000176805,0.0001551529],"category_scores_gemma":[0.00009776402,0.0001025753,0.00004027459,0.00006195828,0.0002244125,0.00000184919,0.0001170852,0.00006184472,0.0000225049],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000816705,"about_ca_system_score_gemma":0.0001067005,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001256548,"about_ca_topic_score_gemma":0.0002435267,"domain_scores_codex":[0.9989756,0.00004504671,0.000234137,0.0002757524,0.0002335859,0.0002359004],"domain_scores_gemma":[0.9993731,0.00001627199,0.00004730976,0.0002413791,0.00003510528,0.0002868162],"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":[0.00004077855,0.0001127585,0.09686705,0.00004025559,0.00001001567,0.000001914423,0.00008078659,0.00001567703,0.8970117,0.0001207332,0.001086731,0.004611616],"study_design_scores_gemma":[0.00383925,0.0007780888,0.5762882,0.0001342325,0.00003137999,0.00001302377,0.0001484615,0.004848381,0.396922,0.0004351917,0.01598541,0.0005763327],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99608,0.0003769475,0.002630796,0.00005974409,0.0001092635,0.0001218082,0.000004180473,0.000009516481,0.0006076798],"genre_scores_gemma":[0.9968962,0.000302823,0.00110556,0.0006844156,0.0003959315,0.000007082588,0.00002004065,0.00001790661,0.0005700245],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5000897,"threshold_uncertainty_score":0.41829,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01742089977466492,"score_gpt":0.2858381171034313,"score_spread":0.2684172173287663,"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."}}