{"id":"W2981751289","doi":"10.1093/nar/gkz780","title":"A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor","year":2019,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Université Laval","funders":"Canadian Institutes of Health Research; Fundação de Amparo à Pesquisa do Estado de São Paulo; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Fondation du cancer du sein du Québec; Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro; Ministère de l'Économie, de la Science et de l'Innovation - Québec","keywords":"Biology; Missense mutation; Genetics; Suppressor; Mutation; Evolutionary biology; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000139363,0.000617652,0.0003930613,0.0004271973,0.000225174,0.0002216954,0.0002361664,0.0003388862,0.00210636],"category_scores_gemma":[0.0001714312,0.0001428124,0.0004209338,0.0002887732,0.0003257214,0.00009421378,0.0003063126,0.0004668768,0.0004074628],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001824318,"about_ca_system_score_gemma":0.0001463933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008121278,"about_ca_topic_score_gemma":0.001121636,"domain_scores_codex":[0.9998203,0.00001760675,0.00001510879,0.00007652833,0.00004969769,0.00002072793],"domain_scores_gemma":[0.9998711,0.00003838766,0.0000342055,0.00001949409,0.00001153877,0.00002516639],"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":[0.0001064011,0.00002129073,0.00123871,0.0000307685,0.00002672961,0.0002194489,0.00001402732,0.0001694363,0.9957099,0.00003081289,0.00003285563,0.002399694],"study_design_scores_gemma":[0.00004227853,0.0006285941,0.04570616,0.00001258076,0.0001532063,0.00393111,0.00004969457,0.00242518,0.9448297,0.0001337943,0.002067588,0.00002027277],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940016,0.0008319346,0.002898176,0.00004817415,0.000008615447,0.00002877439,0.001318475,0.0001662857,0.0006979405],"genre_scores_gemma":[0.9967291,0.0002499249,0.001365604,0.00003633594,0.000002830141,0.00002633689,0.0009873306,0.00004624693,0.0005561718],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00210636,"threshold_uncertainty_score":0.007046521,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02494566676092015,"score_gpt":0.3179267546267567,"score_spread":0.2929810878658366,"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."}}