{"id":"W2048705311","doi":"10.1007/s10689-011-9468-4","title":"A survey of APC mutations in Quebec","year":2011,"lang":"en","type":"article","venue":"Familial Cancer","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Université de Sherbrooke; Centre hospitalier de l'Université Laval; Centre Hospitalier de l’Université de Montréal; Hôpital Charles-Le Moyne; McGill University; Jewish General Hospital","funders":"","keywords":"Genetics; Indel; Point mutation; Familial adenomatous polyposis; Germline mutation; Exon; Adenomatous polyposis coli; Mutation; Human genetics; Gene; Biology; Multiplex; Medicine; Colorectal cancer; Cancer; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":true,"ca_fund":false,"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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0001415127,0.0000872478,0.0002208699,0.00009446854,0.00001110574,0.000001742484,0.00007044063,0.00007438654,0.001182314],"category_scores_gemma":[0.000157724,0.00007984453,0.0000387452,0.0003270358,0.0001001542,0.00002937957,0.000022978,0.0001116195,0.0000155853],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000183813,"about_ca_system_score_gemma":0.0005139639,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5487006,"about_ca_topic_score_gemma":0.5872146,"domain_scores_codex":[0.9992219,0.00004824874,0.0002324482,0.0001645558,0.0001739373,0.0001589357],"domain_scores_gemma":[0.9994965,0.00005068124,0.00005500569,0.0001773891,0.0001588856,0.00006156759],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004629158,0.0001141027,0.9799482,0.00005388469,0.00002765821,0.000008434688,0.002371578,0.00002704079,0.004469856,0.00002240344,0.0009059162,0.01158804],"study_design_scores_gemma":[0.0007239352,0.0001441534,0.9886196,0.00005357054,0.00002147512,8.877648e-7,0.00009642855,0.00009282741,0.009833551,0.00004214394,0.0002956416,0.0000757468],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922666,0.000527449,0.00003592409,0.00003485612,0.0005020283,0.0002604959,0.00006881013,0.00001567906,0.006288181],"genre_scores_gemma":[0.9980695,0.0000490974,0.0003797836,0.0001405786,0.00004582482,0.00007337749,0.00001572318,0.00001502406,0.001211089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03851405,"threshold_uncertainty_score":0.9997308,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07823611232277367,"score_gpt":0.3208879140156599,"score_spread":0.2426518016928862,"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."}}