{"id":"W4306247953","doi":"10.1200/jco.21.02873","title":"Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset","year":2022,"lang":"en","type":"article","venue":"Journal of Clinical Oncology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; McGill University Health Centre; University of Toronto; Western University; London Health Sciences Centre; Ottawa Hospital; University Health Network; CancerCare Manitoba; Princess Margaret Cancer Centre; Mount Sinai Hospital; SickKids Foundation; Public Health Ontario; Hospital for Sick Children","funders":"National Cancer Institute","keywords":"Germline; Medicine; Microsatellite; Microsatellite instability; Germline mutation; DNA mismatch repair; Cancer; Genetics; Oncology; Internal medicine; Mutation; Biology; Gene; Allele; Colorectal cancer","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":[0.0002143342,0.0002621193,0.0002298711,0.001172898,0.0001315186,0.0002594359,0.0001896722,0.0003406093,0.001628518],"category_scores_gemma":[0.001683395,0.0001258608,0.0001255582,0.0004653918,0.0001440452,0.0001607983,0.0002984611,0.0002469591,0.0002550886],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001662584,"about_ca_system_score_gemma":0.0001225022,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001369824,"about_ca_topic_score_gemma":0.002044011,"domain_scores_codex":[0.9998323,0.0000366693,0.00001849496,0.00004999292,0.00002996943,0.00003269087],"domain_scores_gemma":[0.9987056,0.0002979213,0.0006539537,0.00004198374,0.00009908862,0.0002014134],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002378919,0.00001422348,0.9847561,0.00001444391,0.00002064428,0.0001866481,0.0000330205,0.00009568596,0.009958852,0.00002270849,0.00007368309,0.004586214],"study_design_scores_gemma":[0.000004623001,0.0001385837,0.9948059,0.000005254773,0.00001994121,0.001704381,0.00004642045,0.0005086572,0.00249909,0.00004380742,0.0002199164,0.000003604657],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990126,0.000249752,0.0002738499,0.00001389594,0.000002292006,0.000005399719,0.0002221158,0.00001454666,0.0002056092],"genre_scores_gemma":[0.9989849,0.00007570512,0.0005567804,0.00001129972,0.000004716878,0.000004002331,0.0002053961,0.000003274298,0.0001538749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001628518,"threshold_uncertainty_score":0.005447924,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06225052470643885,"score_gpt":0.4450766673061232,"score_spread":0.3828261425996844,"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."}}