{"id":"W3157357086","doi":"10.1101/2021.02.16.431409","title":"From GWAS Variant to Function: a Study of ~148,000 Variants for Blood Cell Traits","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Center for Advancing Translational Sciences; National Institutes of Health; New York Stem Cell Foundation","keywords":"Genome-wide association study; Computational biology; Biology; Phenome; Epigenomics; Genetic association; Gene; Genome; Genetics; Function (biology); Chromatin; Quantitative trait locus; Single-nucleotide polymorphism; DNA methylation; Genotype; Gene expression","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":[0.001729055,0.0004391234,0.0005262372,0.00121402,0.0007586324,0.0009839325,0.0005587704,0.0007120462,0.003196593],"category_scores_gemma":[0.004186532,0.0003214617,0.000724965,0.001553396,0.0004464396,0.0003010262,0.0008875787,0.0009450354,0.0006338251],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001521939,"about_ca_system_score_gemma":0.0002515134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001359074,"about_ca_topic_score_gemma":0.001832889,"domain_scores_codex":[0.9988407,0.0003229282,0.00009246967,0.0004938495,0.0001718423,0.00007818165],"domain_scores_gemma":[0.9968844,0.001747826,0.0003861773,0.0005400485,0.0001883353,0.0002531419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00148587,0.0002431318,0.8974909,0.0002315408,0.001388748,0.002960611,0.0005649846,0.001077522,0.04391132,0.001196245,0.005026182,0.04442289],"study_design_scores_gemma":[0.0003101796,0.0006516526,0.9604126,0.00006135892,0.001277636,0.006416509,0.000430112,0.006947823,0.007855691,0.002501415,0.01305491,0.00007999561],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904535,0.0008170032,0.004848912,0.0001733271,0.00002626298,0.00003173323,0.003037886,0.0001374236,0.0004740874],"genre_scores_gemma":[0.9905761,0.0002391053,0.005572426,0.0002217872,0.00003067766,0.0000497229,0.002791539,0.00009268401,0.0004258426],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003196593,"threshold_uncertainty_score":0.01069367,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01383649734826154,"score_gpt":0.2290177917793405,"score_spread":0.215181294431079,"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."}}