{"id":"W2035854310","doi":"10.1016/j.ajhg.2009.08.018","title":"Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer","year":2009,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":191,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Cancer Care Ontario; Mount Sinai Hospital","funders":"National Cancer Institute","keywords":"Missense mutation; Breast cancer; Biology; Genetics; Mutation; Gene; Cancer","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003556727,0.0001423168,0.0002786132,0.00008970675,0.00008151374,0.00001024572,0.0003397116,0.0000447858,0.00002470233],"category_scores_gemma":[0.00004119008,0.0001092939,0.0001501078,0.0001826903,0.0003681589,0.000003885488,0.00003839124,0.0001784816,0.000001210594],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004064689,"about_ca_system_score_gemma":0.0002531654,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000194088,"about_ca_topic_score_gemma":0.0000859366,"domain_scores_codex":[0.9987692,0.0002278762,0.0004447396,0.0001393691,0.0002163665,0.0002024316],"domain_scores_gemma":[0.9985656,0.00002064805,0.0006885382,0.0003366959,0.0002945704,0.00009400237],"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":[0.0003834649,0.0001912118,0.01910662,0.000003746161,0.0001192359,0.00001869362,0.0001362108,0.002014773,0.9741148,0.0002451875,0.0004379812,0.003228072],"study_design_scores_gemma":[0.001542049,0.002478404,0.834073,0.00008138728,0.0002449024,0.0006676093,0.0004761816,0.0002032005,0.1573674,0.00182936,0.0007168274,0.0003196347],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976403,0.001393576,0.0004106577,0.0002284402,0.00005694583,0.00009313809,0.00006226777,0.000003362278,0.0001113048],"genre_scores_gemma":[0.99753,0.0009183929,0.00108794,0.0002250566,0.0001783197,0.000001745113,0.000006362851,0.00001337106,0.00003882701],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8167474,"threshold_uncertainty_score":0.4456877,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008613040800784429,"score_gpt":0.26198305049904,"score_spread":0.2533700096982556,"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."}}