{"id":"W2087900265","doi":"10.1002/humu.21056","title":"High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Centre hospitalier de l'Université Laval; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Université de Sherbrooke; Hôpital Charles-Le Moyne; McGill University; Jewish General Hospital","funders":"Cancer Research Society","keywords":"Lynch syndrome; Genetics; MSH2; Biology; MSH6; MLH1; PMS2; Founder effect; Exon; Proband; Mutation; Haplotype; Cancer; DNA mismatch repair; Gene; Germline mutation; Genotype; Colorectal cancer","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007835097,0.00009930048,0.0001900433,0.000318247,0.00005665865,0.000008716329,0.00003174794,0.00007794235,0.00006597384],"category_scores_gemma":[0.00007978349,0.0001009814,0.00002114889,0.0002048651,0.00007119756,0.00005788425,0.000004175643,0.0001056616,0.000004600101],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002730993,"about_ca_system_score_gemma":0.000138671,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.09428471,"about_ca_topic_score_gemma":0.1059222,"domain_scores_codex":[0.9992864,0.0000426609,0.000192386,0.0001720112,0.0001454043,0.0001611443],"domain_scores_gemma":[0.9996105,0.00006183172,0.00005381849,0.00009829653,0.0000838497,0.00009166453],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007802207,0.0006892902,0.6726779,0.001388412,0.0002851397,0.00154175,0.04225439,0.001943557,0.1692909,0.02658457,0.0007098363,0.08255614],"study_design_scores_gemma":[0.0007521405,0.0006568171,0.9798665,0.0001008184,0.00003339159,0.00005069701,0.0002221429,0.00006240981,0.001655933,0.01650976,0.000003387946,0.00008600572],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978299,0.0002189052,0.0002304606,0.0001959618,0.00008086216,0.0004373398,0.000007173187,0.00001493105,0.0009845151],"genre_scores_gemma":[0.9975922,0.000007739967,0.002076027,0.0001538495,0.00001686775,0.000027477,0.00006600383,0.00000875113,0.00005108827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3071885,"threshold_uncertainty_score":0.9117466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01218864164485073,"score_gpt":0.2696844393061472,"score_spread":0.2574957976612965,"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."}}