{"id":"W3198768601","doi":"10.1038/s41523-021-00322-9","title":"Clinical consequences of BRCA2 hypomorphism","year":2021,"lang":"en","type":"article","venue":"npj Breast Cancer","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"European Regional Development Fund; Instituto de Salud Carlos III; Institució Catalana de Recerca i Estudis Avançats; Centres de Recerca de Catalunya; Fundación Cellex; Agència de Gestió d'Ajuts Universitaris i de Recerca; Ministerio de Economía y Competitividad; Generalitat de Catalunya; European Commission; Fanconi Anemia Research Fund","keywords":"Fanconi anemia; RAD51; Missense mutation; Allele; Breast cancer; Cancer research; BRCA2 Protein; Biology; Ovarian cancer; DNA repair; Phenotype; Chemotherapy; DNA damage; Genetics; Cancer; Mutation; Germline mutation; DNA; Gene","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":[0.00009881793,0.0004946648,0.0002354661,0.0004061514,0.0002219922,0.0002144109,0.0001445191,0.0004353968,0.002465757],"category_scores_gemma":[0.0004100679,0.0001051225,0.0001179241,0.0002206798,0.0003242998,0.00009124664,0.0002079321,0.0004168087,0.0003537929],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002087192,"about_ca_system_score_gemma":0.0001577891,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004104504,"about_ca_topic_score_gemma":0.0004644432,"domain_scores_codex":[0.9998733,0.00001785674,0.000009396312,0.0000446751,0.00003138532,0.0000233786],"domain_scores_gemma":[0.9998312,0.00003738006,0.00005481297,0.00001226014,0.00001289105,0.00005146458],"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":[0.0008149488,0.0001308726,0.02488068,0.0001466432,0.00003492743,0.1615534,0.0001344946,0.0002564923,0.7829903,0.0007941268,0.001940597,0.02632243],"study_design_scores_gemma":[0.00005759168,0.0007839698,0.1316196,0.00004118774,0.0000819366,0.6817147,0.0001447261,0.0007002847,0.174424,0.0006013755,0.009802405,0.00002816646],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889321,0.001659168,0.00195375,0.0004795427,0.0000477955,0.00005446577,0.0006446205,0.0003075393,0.00592106],"genre_scores_gemma":[0.9973038,0.0004354195,0.0004746666,0.000164069,0.0000133057,0.00001144697,0.0002061285,0.00003121601,0.001359958],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002465757,"threshold_uncertainty_score":0.008248746,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01550987025728233,"score_gpt":0.3531409622171662,"score_spread":0.3376310919598839,"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."}}