{"id":"W4389206230","doi":"10.1038/s41598-023-47441-w","title":"NTHL1 is a recessive cancer susceptibility gene","year":2023,"lang":"en","type":"article","venue":"Scientific Reports","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Janssen Biotech; Genentech; Syöpäsäätiö; Maze Therapeutics; Novartis; Génome Québec; Sigrid Juséliuksen Säätiö; McGill University; Sanofi; Celgene; Biogen; GlaxoSmithKline; Business Finland; Helsingin Yliopisto; Bristol-Myers Squibb; AstraZeneca; Pfizer","keywords":"Genotyping; Gene; Candidate gene; Exome sequencing; Colorectal cancer; Genetics; Breast cancer; Biology; Cancer; Medicine; Internal medicine; Oncology; Genotype; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002954545,0.0005284116,0.0004558466,0.0008531429,0.0003406871,0.0003579471,0.0004056014,0.000278332,0.004040084],"category_scores_gemma":[0.000968308,0.0001283623,0.0004547295,0.0008313733,0.0002009298,0.0001102121,0.0003831756,0.0003015522,0.0007951524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005066833,"about_ca_system_score_gemma":0.0003447163,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007186296,"about_ca_topic_score_gemma":0.00670817,"domain_scores_codex":[0.9996535,0.00004723541,0.00003505621,0.000126307,0.00009796248,0.00004003824],"domain_scores_gemma":[0.9996694,0.00008330911,0.0001200669,0.00003184752,0.00003299572,0.00006229099],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003249249,0.0001034816,0.5705863,0.0008059946,0.001109878,0.02728822,0.000574178,0.001455497,0.3367489,0.001020255,0.004714406,0.05234364],"study_design_scores_gemma":[0.0001816646,0.000309002,0.8883992,0.0001930406,0.001108148,0.03963756,0.0003039291,0.003473564,0.04485739,0.0007439928,0.02073408,0.00005837219],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.984077,0.003717021,0.001787205,0.0002553541,0.00004411317,0.00003378786,0.007490376,0.0001301636,0.002465098],"genre_scores_gemma":[0.9930663,0.0005371532,0.00118829,0.00006517595,0.00002008942,0.00001269738,0.003323992,0.00002182213,0.001764427],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007186296,"threshold_uncertainty_score":0.0142889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01632201074682172,"score_gpt":0.2875527356767297,"score_spread":0.271230724929908,"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."}}