{"id":"W4304845645","doi":"10.3324/haematol.2022.281180","title":"Variation and impact of polygenic hematologic traits in monogenic sickle cell disease","year":2022,"lang":"en","type":"article","venue":"Haematologica","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Montreal Heart Institute","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Fondation Charles-Bruneau","keywords":"Acute chest syndrome; Fetal hemoglobin; Locus (genetics); Medicine; Disease; Genotype; Epistasis; Context (archaeology); Mendelian randomization; Genome-wide association study; Sickle cell anemia; Mendelian inheritance; Internal medicine; Biology; Immunology; Genetics; Single-nucleotide polymorphism; Gene; Pregnancy; Genetic variants","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":[0.001559891,0.0004195401,0.0004258509,0.0007227407,0.0003698108,0.0005541483,0.0003098903,0.0004729576,0.001458899],"category_scores_gemma":[0.003263758,0.0001794919,0.0006145915,0.0007782673,0.0005175558,0.000201724,0.0004984463,0.0004900803,0.0001058236],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001663957,"about_ca_system_score_gemma":0.0001726348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003274263,"about_ca_topic_score_gemma":0.003850256,"domain_scores_codex":[0.9982136,0.0009898805,0.0001053485,0.0004215334,0.0001617509,0.0001079071],"domain_scores_gemma":[0.9978693,0.001229071,0.0004078154,0.000260637,0.00007133435,0.0001619102],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00104968,0.00008359226,0.9597731,0.00004677966,0.001624749,0.0009164512,0.0004285658,0.002576375,0.01883677,0.0009288472,0.0002406219,0.0134945],"study_design_scores_gemma":[0.00001574552,0.0001269584,0.9933332,0.00000896149,0.0001815481,0.0005080909,0.00005676685,0.004491115,0.000353069,0.0007294978,0.0001805212,0.00001461273],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977934,0.0003221973,0.001537101,0.00005170563,0.000006727879,0.000003536914,0.0001414581,0.00001202283,0.0001318097],"genre_scores_gemma":[0.9993001,0.00006402928,0.0004344391,0.0000190903,0.000007008376,0.000002689073,0.0001024328,0.000005739359,0.00006449129],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003274263,"threshold_uncertainty_score":0.00824964,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01064703182166748,"score_gpt":0.2487597712837071,"score_spread":0.2381127394620396,"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."}}