{"id":"W2896174696","doi":"10.1002/art.40748","title":"Annotating Transcriptional Effects of Genetic Variants in Disease‐Relevant Tissue: Transcriptome‐Wide Allelic Imbalance in Osteoarthritic Cartilage","year":2018,"lang":"en","type":"article","venue":"Arthritis & Rheumatology","topic":"Osteoarthritis Treatment and Mechanisms","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Seventh Framework Programme; ZonMw; Universiteit Leiden; Leids Universitair Medisch Centrum; European Commission; Arthritis Society; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Dutch Arthritis Society","keywords":"Single-nucleotide polymorphism; Transcriptome; Biology; Allele; Genetics; Cartilage; SNP; Candidate gene; Gene; Osteoarthritis; False discovery rate; Bioinformatics; Gene expression; Genotype; Medicine; Pathology; Anatomy","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001931046,0.0003499646,0.0009866185,0.000418078,0.00007587668,0.00001425262,0.0001452543,0.0001958265,0.0001806447],"category_scores_gemma":[0.0003020125,0.0003836858,0.0001331682,0.000422177,0.0003680074,0.0001678709,0.00002605405,0.0002406065,0.00008993947],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006694953,"about_ca_system_score_gemma":0.0002285473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001209049,"about_ca_topic_score_gemma":0.002711572,"domain_scores_codex":[0.9970312,0.000225917,0.0009860927,0.0006314841,0.0003340961,0.0007911786],"domain_scores_gemma":[0.9987869,0.0003151312,0.0001353355,0.000383175,0.0001094602,0.0002699423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001375824,0.001353217,0.5000344,0.001266167,0.000051108,0.006032236,0.005870451,0.000006994047,0.4032006,0.006536859,0.00006720585,0.07420491],"study_design_scores_gemma":[0.04990233,0.009178007,0.8743848,0.01155121,0.0001500705,0.002060217,0.0004142001,0.0002178119,0.04310028,0.006492048,0.001552114,0.0009969806],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822185,0.01490681,0.0002141851,0.0004831557,0.0006083819,0.001132771,0.00003398371,0.00006761202,0.0003346071],"genre_scores_gemma":[0.9954603,0.002147624,0.001689727,0.0002514412,0.00003915081,0.0002337089,0.00005937586,0.00005446365,0.00006417977],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3743503,"threshold_uncertainty_score":0.9998615,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006352926739011204,"score_gpt":0.2399932051145098,"score_spread":0.2336402783754986,"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."}}