{"id":"W4312095046","doi":"10.1093/nar/gkac1198","title":"Optimized high-throughput screening of non-coding variants identified from genome-wide association studies","year":2022,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Cancer Institute; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu","keywords":"Biology; Enhancer; In silico; Genome-wide association study; Single-nucleotide polymorphism; Computational biology; Genetics; Genetic association; Gene; Genome; SNP; Transcription factor; Genotype","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":[0.004173973,0.0009285021,0.001729968,0.00113515,0.0004372223,0.001249393,0.001023294,0.0007885683,0.001671898],"category_scores_gemma":[0.006811531,0.0006526576,0.001172295,0.001049489,0.0004715208,0.0003840941,0.001068624,0.001056369,0.001264757],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005166201,"about_ca_system_score_gemma":0.00100327,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001696382,"about_ca_topic_score_gemma":0.004639531,"domain_scores_codex":[0.997331,0.0009034333,0.0001831701,0.0005855772,0.0008073585,0.0001893677],"domain_scores_gemma":[0.9957328,0.002973306,0.0002621686,0.0003976926,0.0004662505,0.0001677352],"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":[0.001387531,0.0003130609,0.01674991,0.0006569456,0.0006104095,0.0005575827,0.000118945,0.03386156,0.8940031,0.001706727,0.002227516,0.04780674],"study_design_scores_gemma":[0.0003857043,0.0008249691,0.03715524,0.00004108506,0.0004329714,0.0008856922,0.00009400742,0.3678332,0.5803285,0.003032381,0.008780202,0.0002060657],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5449747,0.001793131,0.431461,0.0004509938,0.0001426578,0.0007526925,0.0120771,0.00610288,0.002244837],"genre_scores_gemma":[0.5667557,0.000810875,0.4139495,0.0003863682,0.00005653148,0.0008329095,0.01475256,0.0005803101,0.00187528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004173973,"threshold_uncertainty_score":0.0220744,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03718825305077819,"score_gpt":0.3235309787782848,"score_spread":0.2863427257275066,"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."}}