{"id":"W4225070909","doi":"10.1101/2022.01.26.22269309","title":"Variation and impact of polygenic hematological traits in monogenic sickle cell disease","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Montreal Heart Institute","funders":"Canadian Institutes of Health Research; National Institutes of Health; Fondation Charles-Bruneau; National Heart, Lung, and Blood Institute; Sanofi","keywords":"Mendelian randomization; Locus (genetics); Disease; Medicine; Genotype; Context (archaeology); Fetal hemoglobin; Acute chest syndrome; Epistasis; Genome-wide association study; Mendelian inheritance; Internal medicine; Biology; Sickle cell anemia; Genetics; Gene; Single-nucleotide polymorphism; Genetic variants; Pregnancy","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":[0.001492373,0.0004160376,0.0003781641,0.0007351927,0.0003533027,0.0005301536,0.000303287,0.0004022319,0.00188177],"category_scores_gemma":[0.002949631,0.0001287765,0.0004489077,0.000701004,0.0004672401,0.000186335,0.0004366968,0.0004290458,0.0001211077],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001334872,"about_ca_system_score_gemma":0.0001289895,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002305474,"about_ca_topic_score_gemma":0.002295199,"domain_scores_codex":[0.9985785,0.0007693784,0.00008671084,0.0003338571,0.0001465619,0.0000850449],"domain_scores_gemma":[0.9977096,0.001272458,0.0004501377,0.0002526826,0.0001049191,0.0002101324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006896799,0.00005737171,0.9774031,0.00003074684,0.0009350414,0.0004342652,0.0001526918,0.0009233061,0.01174536,0.0004835427,0.0002037114,0.006941366],"study_design_scores_gemma":[0.00001359175,0.0001308597,0.9961653,0.000008102778,0.0001359759,0.0003867762,0.00004191314,0.002158088,0.0004288743,0.0003680053,0.000154034,0.000008531469],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980432,0.0002456662,0.001261222,0.00005286244,0.000009225447,0.00000462889,0.0001936691,0.000008831152,0.0001807271],"genre_scores_gemma":[0.999506,0.00003451691,0.0002924135,0.00001658472,0.000006847013,0.000002324009,0.00008686905,0.000003204613,0.00005134134],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002305474,"threshold_uncertainty_score":0.007892489,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0137762669417665,"score_gpt":0.2716970722846483,"score_spread":0.2579208053428819,"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."}}