{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001331186,0.001197418,0.0006047785,0.002275644,0.0003250795,0.0005253071,0.0006471759,0.001104494,0.001428731],"category_scores_gemma":[0.00306642,0.0004514759,0.0005097278,0.0006812305,0.0004738638,0.0003597969,0.0008207463,0.0009849506,0.00139051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002494995,"about_ca_system_score_gemma":0.0004854859,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007214332,"about_ca_topic_score_gemma":0.001960695,"domain_scores_codex":[0.9971284,0.0008188632,0.0001764642,0.0007303827,0.001000055,0.0001457978],"domain_scores_gemma":[0.9983101,0.0007003603,0.0003874509,0.0001809303,0.0002566011,0.0001645993],"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":[0.0003344271,0.0005112885,0.07799622,0.0002745709,0.0001859148,0.0005458104,0.0002222398,0.001157395,0.8039804,0.0005568429,0.00255877,0.1116762],"study_design_scores_gemma":[0.0002625517,0.005508006,0.2366457,0.0003014611,0.0004434396,0.01439288,0.0003692283,0.03715791,0.670077,0.001744749,0.03280634,0.0002906676],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.4555658,0.007467069,0.5123348,0.001110571,0.000598778,0.00259065,0.00660061,0.004452693,0.009279059],"genre_scores_gemma":[0.5210528,0.001772519,0.4641543,0.001050242,0.0001631689,0.001259095,0.005269701,0.0001487002,0.005129533],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.002275644,"threshold_uncertainty_score":0.007040024,"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."}}