{"id":"W2911493108","doi":"10.1002/humu.23721","title":"A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital; McGill University Health Centre","funders":"Barbour Foundation; KWF Kankerbestrijding; National Institute for Health and Care Research; Cancer Research UK","keywords":"PMS2; Microsatellite instability; Microsatellite; Genotyping; Biology; Lynch syndrome; DNA mismatch repair; Genetic testing; Cancer; Genetics; Allele; Genotype; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003208114,0.0001167003,0.0002159723,0.00005882544,0.00007313709,0.00001431787,0.00002887184,0.00006991021,0.0001586473],"category_scores_gemma":[0.0001879303,0.0001141804,0.00004843621,0.0001328306,0.0002827947,0.00007025303,0.00002820117,0.00009575154,0.000009669194],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002469695,"about_ca_system_score_gemma":0.0002065375,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000206334,"about_ca_topic_score_gemma":0.00004954905,"domain_scores_codex":[0.9989624,0.00006860878,0.0002651497,0.0003107885,0.00023127,0.0001617596],"domain_scores_gemma":[0.9993271,0.000126922,0.00007908603,0.0001542644,0.0002309812,0.0000816214],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008766307,0.00009601872,0.1336162,0.0002113393,0.0000274009,0.00001001156,0.00268375,0.0001614176,0.8621686,0.0004313712,0.0001073494,0.000398906],"study_design_scores_gemma":[0.001805562,0.001066789,0.1868366,0.000235601,0.0001173048,0.0001391416,0.001312339,0.0006003756,0.8071254,0.0003137504,0.0002049223,0.0002421516],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968221,0.0003250703,0.0002979303,0.00005479708,0.00008186404,0.0006354224,0.00003452302,0.00004428388,0.001704058],"genre_scores_gemma":[0.9963039,0.000007700527,0.003241112,0.0001632235,0.00001906284,0.00001862937,0.00005381141,0.000008825124,0.0001837517],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0550431,"threshold_uncertainty_score":0.4656142,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01452125011307261,"score_gpt":0.268725851715689,"score_spread":0.2542046016026164,"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."}}