{"id":"W4408230169","doi":"10.1101/2025.03.05.25323443","title":"Genetic drivers and clinical consequences of mosaic chromosomal alterations in 1 million individuals","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"National Institutes of Health","keywords":"Mosaic; Biology; Genetics; Evolutionary biology; History; Ancient history","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":[0.0002771195,0.0001605207,0.0001525485,0.0004005393,0.0002196351,0.0003322446,0.00015946,0.0003295609,0.003491158],"category_scores_gemma":[0.0009680695,0.0001100409,0.0001382054,0.0003860503,0.0001712024,0.000121613,0.0003357777,0.0002533066,0.0001842611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001520124,"about_ca_system_score_gemma":0.0001063537,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008470264,"about_ca_topic_score_gemma":0.0007379189,"domain_scores_codex":[0.9998032,0.00004344734,0.00001187238,0.00007475392,0.00003750223,0.00002906764],"domain_scores_gemma":[0.9997814,0.00005275732,0.000102363,0.00001994218,0.00001011083,0.00003337854],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009248332,0.00007544293,0.9270459,0.00005595237,0.0001875298,0.001441624,0.0002702591,0.0005464506,0.04229413,0.001153618,0.001525138,0.02447887],"study_design_scores_gemma":[0.00003774318,0.0002073267,0.9806442,0.00002546358,0.0001072826,0.005234468,0.0002922936,0.001245167,0.007974793,0.001273715,0.002945704,0.00001188697],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981411,0.000245443,0.0004069846,0.00009753463,0.000005689055,0.000003571634,0.0006557586,0.00003080179,0.0004131809],"genre_scores_gemma":[0.9987877,0.0001011979,0.0003474088,0.00002317411,0.000007712803,0.000004158484,0.000367991,0.000006348022,0.000354337],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003491158,"threshold_uncertainty_score":0.01167911,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01836262447394961,"score_gpt":0.2850518186537252,"score_spread":0.2666891941797756,"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."}}