{"id":"W2324638052","doi":"10.1007/s10689-005-2572-6","title":"The Value of Multi-Modal Gene Screening in HNPCC in Quebec: Three Mutations in Mismatch Repair Genes that would have not been Correctly Identified by Genomic DNA Sequencing Alone","year":2006,"lang":"en","type":"article","venue":"Familial Cancer","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Jewish General Hospital; McGill University","funders":"Cancer Research Society","keywords":"Multiplex ligation-dependent probe amplification; Genetics; MSH2; DNA mismatch repair; Biology; MLH1; Lynch syndrome; Mutation; genomic DNA; Multiplex; Gene; Exon; DNA repair","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005436234,0.0003134671,0.0005991619,0.0002661958,0.0001013737,0.00003115496,0.0002678749,0.0003367794,0.00004180724],"category_scores_gemma":[0.0001057522,0.0002826547,0.000154275,0.0004449435,0.0002370126,0.0001106756,0.0001076377,0.0006255299,0.000004039992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001475896,"about_ca_system_score_gemma":0.0006205101,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5588817,"about_ca_topic_score_gemma":0.7869194,"domain_scores_codex":[0.997304,0.0001368898,0.0008615238,0.0005793847,0.0005318783,0.0005863414],"domain_scores_gemma":[0.9988951,0.000233952,0.0002421075,0.0004360121,0.0001129373,0.00007989494],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007542295,0.00009659042,0.5603782,0.00007285165,0.00004981845,0.00005485088,0.00157903,0.03901525,0.391763,0.000005531577,0.0005195416,0.005711141],"study_design_scores_gemma":[0.00330862,0.00008721649,0.8129031,0.0002464599,0.00005890128,0.000008367225,0.001143898,0.04469245,0.1368904,0.00006535197,0.0003001771,0.0002950543],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920756,0.004819064,0.000566151,0.0003701314,0.0006907965,0.001133557,0.0001403277,0.00005185392,0.000152501],"genre_scores_gemma":[0.9957318,0.0002254997,0.002135923,0.0002363413,0.0001798447,0.0002815957,0.00007684876,0.00006639344,0.00106578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2548726,"threshold_uncertainty_score":0.9999626,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03594453219173764,"score_gpt":0.2903235365869574,"score_spread":0.2543790043952198,"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."}}