{"id":"W4413344563","doi":"10.1101/2025.08.11.25333294","title":"Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing profoundly underestimates disease associations","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"","keywords":"Exome sequencing; Disease; Exome; Biology; Genome; Computational biology; Genetics; Indeterminate; Haematopoiesis; Medicine; Gene; Phenotype; Stem cell; Pathology","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":[0.01021676,0.0007480686,0.0007395793,0.0008177566,0.0004262251,0.001795901,0.0005482166,0.0007408512,0.002534041],"category_scores_gemma":[0.02201883,0.0003600543,0.0004662519,0.0007074815,0.001010063,0.0006897364,0.001163605,0.00115778,0.0004749765],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004097709,"about_ca_system_score_gemma":0.0005305227,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00137195,"about_ca_topic_score_gemma":0.001883369,"domain_scores_codex":[0.9943633,0.003123527,0.0002829426,0.001206126,0.000743718,0.000280398],"domain_scores_gemma":[0.9823071,0.01378063,0.0015194,0.001639051,0.0005290405,0.0002248053],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001629633,0.0001938001,0.7473705,0.001008158,0.002580393,0.0007243055,0.000655544,0.01694353,0.1058538,0.009758449,0.00622877,0.107053],"study_design_scores_gemma":[0.0003036745,0.0009215676,0.6733623,0.0005778127,0.002022666,0.003885658,0.0007166861,0.09413976,0.1168728,0.07275879,0.03428761,0.0001506959],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8326163,0.004872877,0.1491751,0.002312493,0.000258492,0.0001245086,0.004744828,0.0007509892,0.005144556],"genre_scores_gemma":[0.9778891,0.0004275995,0.01823939,0.001286579,0.00005991629,0.00007395627,0.001349667,0.00008875498,0.0005852563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01021676,"threshold_uncertainty_score":0.05403203,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03871362383053481,"score_gpt":0.3264700041266781,"score_spread":0.2877563802961434,"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."}}