{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005159712,0.0006608404,0.0004324733,0.003096675,0.002785931,0.0006222515,0.0005672668,0.0007029437,0.004904882],"category_scores_gemma":[0.002848157,0.0002778889,0.0003331727,0.001823547,0.0009718015,0.0001479208,0.0005802142,0.000361992,0.0002240538],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003970502,"about_ca_system_score_gemma":0.004113631,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7258568,"about_ca_topic_score_gemma":0.7936272,"domain_scores_codex":[0.9989042,0.0001158658,0.00004473975,0.0002163912,0.000450476,0.0002683146],"domain_scores_gemma":[0.9989517,0.0002181948,0.0002146431,0.00006455469,0.0003269821,0.0002239207],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004965097,0.00006892299,0.90738,0.0001315396,0.0001958821,0.03085499,0.006334251,0.0004273916,0.01081918,0.001361516,0.005133499,0.03679637],"study_design_scores_gemma":[0.00003844507,0.0001255438,0.919462,0.00008773382,0.0001437912,0.06344076,0.002412809,0.0005481387,0.001671223,0.00021099,0.01178783,0.00007075595],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944071,0.00132821,0.000294687,0.0003251399,0.00001882982,0.00002548306,0.0004933356,0.00003463304,0.003072572],"genre_scores_gemma":[0.9977,0.0006757896,0.0002553329,0.0001016113,0.00000987316,0.000006419174,0.0002553274,0.00001008812,0.0009854803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2741432,"threshold_uncertainty_score":0.5515152,"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."}}