{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008156343,0.00007269553,0.0001243659,0.000009533544,0.00001594327,0.000005151575,0.00007939806,0.00008663449,0.0002567536],"category_scores_gemma":[0.00002698355,0.00007061471,0.00008455742,0.00004928853,0.0001118875,0.000001028833,0.00004853771,0.00005457237,0.000003959707],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005171698,"about_ca_system_score_gemma":0.0001773012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000505022,"about_ca_topic_score_gemma":0.00004437717,"domain_scores_codex":[0.9993978,0.00002515996,0.0001830571,0.0001980557,0.000075121,0.0001208262],"domain_scores_gemma":[0.9995773,0.000009081165,0.00003986138,0.0002018424,0.0001145045,0.00005741406],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003745249,0.00004993572,0.05929808,0.00002891559,0.00009288864,0.00001117292,0.00001476,0.0002464471,0.8991287,0.00006438168,0.003040552,0.0379867],"study_design_scores_gemma":[0.0005855659,0.00005530734,0.1721253,0.00004242396,0.00003504995,0.0001932192,0.00004454928,0.00004437811,0.7817321,0.00005406396,0.04490075,0.0001873139],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862364,0.008528494,0.001792949,0.0008203062,0.0006026457,0.00005369836,0.0001365176,0.00000946901,0.001819514],"genre_scores_gemma":[0.9972,0.001079077,0.0006095671,0.0002435229,0.0003382084,0.000007648962,0.00002046484,0.000009854916,0.0004916651],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1173966,"threshold_uncertainty_score":0.2879584,"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."}}