{"id":"W2560340562","doi":"10.1371/journal.pone.0167984","title":"The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?","year":2016,"lang":"en","type":"article","venue":"PLoS ONE","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"Deutsche Forschungsgemeinschaft; Bundesministerium für Bildung und Forschung; Wilhelm Sander-Stiftung","keywords":"Nijmegen breakage syndrome; Genetics; Biology; Mutation; Slavic languages; Founder effect; Gene; Allele; DNA; Haplotype; DNA damage","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":[0.0007741945,0.0004308817,0.0006348814,0.0005677752,0.0003562784,0.0007820402,0.0007907136,0.0007560995,0.004960325],"category_scores_gemma":[0.002592298,0.0001449335,0.0002551414,0.00037039,0.001005894,0.0004196623,0.0003469844,0.0004228992,0.0003329663],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003112995,"about_ca_system_score_gemma":0.0004731678,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002914353,"about_ca_topic_score_gemma":0.003576452,"domain_scores_codex":[0.9996619,0.00008478146,0.0000197665,0.0001154208,0.00003734508,0.00008075382],"domain_scores_gemma":[0.9992131,0.0002725993,0.0002603861,0.00006627005,0.00004633028,0.0001413279],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008719181,0.000132527,0.8931168,0.0003735108,0.0004618184,0.009448557,0.001337887,0.0004554776,0.02844032,0.006334178,0.001920599,0.05710644],"study_design_scores_gemma":[0.00004634839,0.0004365543,0.9726717,0.0002288388,0.0002140291,0.01261199,0.00107736,0.00112175,0.001646375,0.003410986,0.006483682,0.00005042968],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.976335,0.01330336,0.001358444,0.003433223,0.0001206816,0.00001799436,0.0003540417,0.00003563601,0.005041617],"genre_scores_gemma":[0.9960666,0.001906405,0.0003180632,0.000444588,0.0001088972,0.000009641505,0.0001254371,0.00001118189,0.001009174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004960325,"threshold_uncertainty_score":0.01659393,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02348733533047686,"score_gpt":0.2411283875914207,"score_spread":0.2176410522609438,"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."}}