{"id":"W4410116415","doi":"10.1101/2025.05.05.651929","title":"CRISPRi perturbation screens and eQTLs provide complementary and distinct insights into GWAS target genes","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Single-cell and spatial transcriptomics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Uppsala Multidisciplinary Center for Advanced Computational Science; National Institutes of Health; Vetenskapsrådet; Knut och Alice Wallenbergs Stiftelse; European Commission","keywords":"Genome-wide association study; Computational biology; Biology; Gene; Genetics; Single-nucleotide polymorphism; 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":[0.002787819,0.00111082,0.00124551,0.001644533,0.0003743873,0.001493436,0.001051004,0.001029904,0.003475663],"category_scores_gemma":[0.002548766,0.0004343606,0.0009866495,0.001077943,0.001261392,0.0006202128,0.001716741,0.001791308,0.001073253],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008982448,"about_ca_system_score_gemma":0.0005669643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008796816,"about_ca_topic_score_gemma":0.001497566,"domain_scores_codex":[0.9978272,0.0004308527,0.0002165457,0.0005526626,0.0007862021,0.0001865271],"domain_scores_gemma":[0.997556,0.001293272,0.0003926489,0.0005074536,0.0001453391,0.000105344],"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":[0.0003932599,0.00007989422,0.005472812,0.0004807622,0.0003126342,0.0002722162,0.00008877436,0.009464715,0.9557731,0.004863618,0.001057589,0.02174057],"study_design_scores_gemma":[0.0001207241,0.0003492272,0.02388948,0.00008069308,0.00039832,0.0007534895,0.00009120707,0.05740482,0.8944665,0.009034509,0.01325889,0.0001521863],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.4494245,0.002323298,0.5067458,0.001359007,0.0003382303,0.000279141,0.02049963,0.008854505,0.01017594],"genre_scores_gemma":[0.8181003,0.001197062,0.1669011,0.001248937,0.0000567635,0.0003167016,0.00683875,0.001544155,0.003796281],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.003475663,"threshold_uncertainty_score":0.01474357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01211950823361724,"score_gpt":0.2234131292024866,"score_spread":0.2112936209688693,"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."}}