{"id":"W2738417397","doi":"10.1002/mgg3.317","title":"Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes","year":2017,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital","funders":"National Cancer Institute; National Institutes of Health; California Department of Public Health; Mayo Clinic","keywords":"MSH2; MSH6; MUTYH; MLH1; Genetics; Lynch syndrome; Missense mutation; PMS2; Biology; Colorectal cancer; Nonsense mutation; Gene; Germline mutation; DNA mismatch repair; Cancer; Mutation","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003072213,0.0004431373,0.0004142683,0.001072422,0.0003027265,0.000314032,0.0003385606,0.0004508821,0.001871929],"category_scores_gemma":[0.001384547,0.0002135128,0.0003100445,0.0005854253,0.0002255028,0.0000801901,0.0003410114,0.0002391773,0.0004055036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005369467,"about_ca_system_score_gemma":0.0004328809,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002835292,"about_ca_topic_score_gemma":0.003968063,"domain_scores_codex":[0.9995922,0.00006716551,0.00003886056,0.0001473674,0.00009651951,0.00005786442],"domain_scores_gemma":[0.9994044,0.0002577068,0.0001169311,0.00005421307,0.00008040968,0.00008632987],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.003046228,0.0003074971,0.3391938,0.0008002725,0.0004982719,0.01994587,0.001623131,0.001966553,0.5270534,0.0007542878,0.00208115,0.1027296],"study_design_scores_gemma":[0.0004205207,0.001879026,0.7661729,0.0002723023,0.001269746,0.05054829,0.0005269249,0.004049216,0.1513862,0.001082592,0.02233941,0.0000528595],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901723,0.002297017,0.003483905,0.0001020771,0.00002007624,0.0001224375,0.002453881,0.00007817533,0.001270158],"genre_scores_gemma":[0.9896597,0.0007165201,0.006130049,0.0001746327,0.00001474155,0.00005920335,0.002419097,0.00002202806,0.0008040072],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002835292,"threshold_uncertainty_score":0.006262302,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04046064427663347,"score_gpt":0.3377468372518658,"score_spread":0.2972861929752323,"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."}}