{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001506798,0.0001342533,0.0004066525,0.0001469552,0.00008502311,0.000004383567,0.00007422718,0.00007679872,0.0005800566],"category_scores_gemma":[0.00006881005,0.00009886957,0.0001498541,0.0003420256,0.00006183229,0.00003253748,0.00008772268,0.0002239743,0.000007251508],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006299737,"about_ca_system_score_gemma":0.0001335093,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001055314,"about_ca_topic_score_gemma":0.000002482931,"domain_scores_codex":[0.9989373,0.0001056747,0.0003139978,0.0002425116,0.0001650025,0.0002354797],"domain_scores_gemma":[0.9995048,0.00005794616,0.0001219358,0.0001570774,0.0000201381,0.0001381102],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004153033,0.005126697,0.941461,0.001260486,0.0003168594,0.003175774,0.006490755,0.00317663,0.02687902,0.003495298,0.00171019,0.002754235],"study_design_scores_gemma":[0.002579619,0.000894953,0.9900419,0.00003355179,0.0001328471,0.0005909408,0.0008256435,0.00249096,0.0002005701,0.00195421,0.00006067689,0.0001941725],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940183,0.004171426,0.00002132414,0.0004517227,0.00003066364,0.0004205344,0.00002067509,0.00004074553,0.0008246086],"genre_scores_gemma":[0.9993923,0.0002034978,0.0001291164,0.0001146545,0.000004020546,0.00004656667,0.00001868189,0.00001078692,0.00008040621],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04858083,"threshold_uncertainty_score":0.6351213,"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."}}