{"id":"W3187943973","doi":"10.20944/preprints202108.0084.v1","title":"Understanding the Function of a Locus Using the Knowledge Available at Single-Nucleotide Polymorphisms","year":2021,"lang":"en","type":"preprint","venue":"Preprints.org","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Castor Technologies (Canada); Canadian Heart Research Centre; University of Ottawa","funders":"Canadian Institutes of Health Research; Compute Canada","keywords":"Workflow; Locus (genetics); Single-nucleotide polymorphism; Computational biology; GRASP; Computer science; Biology; Scripting language; Genetics; Gene; Data mining; Genotype; Database","routes":{"ca_aff":true,"ca_fund":true,"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":[0.008276219,0.001466387,0.001526759,0.005410003,0.001400965,0.005194459,0.002366856,0.001613311,0.004174425],"category_scores_gemma":[0.022204,0.001147913,0.002199262,0.003850153,0.001570591,0.003856187,0.003904083,0.002912023,0.004334464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009691626,"about_ca_system_score_gemma":0.003637165,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003183133,"about_ca_topic_score_gemma":0.002880734,"domain_scores_codex":[0.9971643,0.0007806886,0.0003236159,0.0009738512,0.0006394037,0.0001181767],"domain_scores_gemma":[0.9848709,0.009278778,0.001227019,0.003136565,0.0009682613,0.000518602],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001273812,0.0003911655,0.08168685,0.003579448,0.001244951,0.003879966,0.00366673,0.04739138,0.09912923,0.1318884,0.02448214,0.6013858],"study_design_scores_gemma":[0.00007611003,0.000107528,0.02152031,0.0005858943,0.0003667389,0.001945952,0.0007513947,0.08584717,0.03914336,0.7707472,0.07863776,0.0002706568],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.01100127,0.0006998271,0.9719425,0.001523977,0.0001187806,0.00008273853,0.005626673,0.006856767,0.002147595],"genre_scores_gemma":[0.07307594,0.001959601,0.913716,0.000561858,0.0001624425,0.0001729772,0.006608585,0.002105583,0.001637049],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008276219,"threshold_uncertainty_score":0.04376936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2291186145601563,"score_gpt":0.3282763394933371,"score_spread":0.09915772493318084,"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."}}