{"id":"W4417027144","doi":"10.1016/j.xjidi.2025.100438","title":"Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome","year":2025,"lang":"en","type":"article","venue":"JID Innovations","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University; Jewish General Hospital","funders":"Instituto de Salud Carlos III; Canadian Institutes of Health Research; Merck Canada; Pfizer","keywords":"Lynch syndrome; Genetic testing; Germline mutation; Germline; MSH2; DNA sequencing; Exome sequencing; DNA mismatch repair","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001439475,0.0003774274,0.0002416584,0.0009625853,0.0002854746,0.0002841677,0.0002202737,0.0006740903,0.001774825],"category_scores_gemma":[0.0009607048,0.0001345938,0.000169558,0.0002972913,0.0003052581,0.0001786053,0.0002641676,0.0003796049,0.0003298017],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001352515,"about_ca_system_score_gemma":0.0001333236,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002018449,"about_ca_topic_score_gemma":0.004782922,"domain_scores_codex":[0.9998344,0.00001873298,0.00001497802,0.00004482679,0.00004545206,0.00004153799],"domain_scores_gemma":[0.9996279,0.0001120553,0.00007888544,0.00003476248,0.0000395358,0.0001068188],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004176395,0.000044969,0.3589333,0.00008583667,0.00004718719,0.491069,0.0007020372,0.0003734126,0.1330464,0.0004309837,0.0008335232,0.01401582],"study_design_scores_gemma":[0.00001328899,0.000192013,0.2740838,0.00002437142,0.0000393741,0.7014825,0.0004254419,0.001473819,0.02025204,0.0002191874,0.001779168,0.00001506616],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947107,0.0003575075,0.0008129902,0.0001954761,0.00001663454,0.0000175764,0.0001212279,0.00008318039,0.003684863],"genre_scores_gemma":[0.9990164,0.00009200823,0.000456316,0.00005108538,0.00001042024,0.000001335617,0.00004589795,0.000006951477,0.0003195934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002018449,"threshold_uncertainty_score":0.005937338,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01235009692315948,"score_gpt":0.2840201317524524,"score_spread":0.271670034829293,"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."}}