{"id":"W3177707721","doi":"10.1158/1538-7445.am2021-2056","title":"Abstract 2056: The genomic landscape of carriers of rare variants in FANCI, a new candidate ovarian cancer predisposing gene","year":2021,"lang":"en","type":"article","venue":"Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Université de Montréal; McGill University Health Centre; Centre Hospitalier de l’Université de Montréal; McGill University","funders":"","keywords":"MSH6; Genetics; Biology; MSH2; MLH1; PMS2; Candidate gene; DNA repair; Population; Gene; DNA mismatch repair; Medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001139345,0.0003065846,0.0001777067,0.001019324,0.0006739895,0.0003318264,0.0002042452,0.000310961,0.003588532],"category_scores_gemma":[0.0006508937,0.00009423005,0.00018021,0.0007862067,0.00034111,0.0001104941,0.0001983808,0.0001756318,0.0001757804],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004492548,"about_ca_system_score_gemma":0.0003782205,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0410789,"about_ca_topic_score_gemma":0.0335066,"domain_scores_codex":[0.9998794,0.000008802482,0.000006115785,0.00003847796,0.0000285779,0.00003868445],"domain_scores_gemma":[0.9997925,0.00005421508,0.00005402221,0.00001028662,0.00003832111,0.00005061292],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007571678,0.00008298056,0.8841404,0.00005981798,0.00008260828,0.02105858,0.001024444,0.0004385069,0.07556665,0.000386649,0.0007367878,0.01566538],"study_design_scores_gemma":[0.00001363032,0.0001576262,0.9755504,0.00001577083,0.0000726492,0.01635903,0.0007042131,0.0007350364,0.004381727,0.0001819598,0.001816887,0.00001119152],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987876,0.000116751,0.0001748615,0.00003600613,0.000002138278,0.000007454219,0.0003152449,0.000008744335,0.0005513138],"genre_scores_gemma":[0.9992742,0.00004030488,0.0001535377,0.00002634162,0.000003602441,0.000002271697,0.0002006161,0.000005409649,0.0002937301],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0410789,"threshold_uncertainty_score":0.08167958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03430300859636045,"score_gpt":0.3601482021135574,"score_spread":0.325845193517197,"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."}}