{"id":"W4404919128","doi":"10.1101/2024.11.27.24317972","title":"Combined analysis of chromatin accessibility, promoter interactions and whole genome sequencing solved the missing heritability in gastric cancer","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Advancing Health Outcomes; Vancouver General Hospital; British Columbia Institute of Technology; BC Cancer Agency; University of British Columbia","funders":"","keywords":"Heritability; Missing heritability problem; Genetics; Cancer; Chromatin; Biology; Computational biology; Genome; Gene; Genotype; Single-nucleotide polymorphism","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003511424,0.0004031002,0.0003726782,0.0007153756,0.0002128575,0.0003683053,0.0002394014,0.0003368486,0.001334864],"category_scores_gemma":[0.0005786229,0.0002467687,0.0004144791,0.000540725,0.0002044387,0.0002166638,0.0004127027,0.0005154713,0.000196332],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002504777,"about_ca_system_score_gemma":0.0002263575,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001769103,"about_ca_topic_score_gemma":0.004162125,"domain_scores_codex":[0.9997786,0.00003106099,0.00001191065,0.00009897244,0.00004684133,0.00003260075],"domain_scores_gemma":[0.9996696,0.0001349311,0.00007513156,0.00005194929,0.00003400749,0.00003449011],"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":[0.0003548366,0.00004772511,0.1243599,0.0003069979,0.0005402202,0.001070449,0.0002124771,0.002928784,0.8227073,0.001026361,0.0007049877,0.04574005],"study_design_scores_gemma":[0.00005397521,0.0001961762,0.7719665,0.0001132337,0.001012509,0.00407998,0.0004369568,0.03412754,0.1667304,0.00508665,0.01612733,0.00006878004],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9690902,0.001689498,0.02522269,0.0001694508,0.00003383526,0.00001646993,0.002800636,0.0002354288,0.0007416448],"genre_scores_gemma":[0.9877312,0.0004840445,0.009554428,0.0000741429,0.0000169667,0.00001304354,0.001469133,0.00007881346,0.000578305],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001769103,"threshold_uncertainty_score":0.00446558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03243751264130142,"score_gpt":0.3219802758800351,"score_spread":0.2895427632387337,"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."}}