{"id":"W6991352630","doi":"","title":"Genotype and Phenotype Characterisation of an Enhanced Friedreich Ataxia GAA Repeat Expansion Mouse Model Fxn_null::YG8s(GAA)>800","year":2019,"lang":"en","type":"article","venue":"Brunel University Research Archive (BURA) (Brunel University London)","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"College of Medicine, University of Florida; Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto; Instituto De Saúde Pública, Universidade do Porto; Universidade do Minho; Taipei Medical University; National Yang-Ming University; Eberhard Karls Universität Tübingen; Rigshospitalet; National Institutes of Health; European Commission; Universidade Federal do Rio Grande do Sul; Université de Recherche Paris Sciences et Lettres; Zhejiang University; International Business Machines Corporation; Tel Aviv University; Hokkaido University; Bundesministerium für Bildung und Forschung; Ataxia UK; Taipei Veterans General Hospital; Ministerio de Ciencia, Innovación y Universidades; Tunghai University; McGill University; Universitat Autònoma de Barcelona; Universidade do Porto; Brain Research Center, National Yang-Ming University; Georgetown University; Friedreich's Ataxia Research Alliance","keywords":"Frataxin; Trinucleotide repeat expansion; Genetically modified mouse; Transgene; Ataxia; Exon; Ratón; Loss of heterozygosity; Knockout mouse","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004975732,0.0005137181,0.000629131,0.001162192,0.001059211,0.00009954715,0.001528623,0.0002141085,0.0002297184],"category_scores_gemma":[0.0003990582,0.0006180501,0.0002170063,0.001143503,0.001200388,0.001530993,0.001512267,0.0008461967,0.0001977295],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003351062,"about_ca_system_score_gemma":0.0007231478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008245346,"about_ca_topic_score_gemma":0.000451997,"domain_scores_codex":[0.9934214,0.001856794,0.0003491357,0.00187992,0.001396301,0.001096413],"domain_scores_gemma":[0.9961874,0.0006544725,0.0003042098,0.001414314,0.0006619547,0.0007776179],"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":[0.003173382,0.0004478649,0.001571183,0.0001223149,0.00003815245,0.0001283162,0.002193689,0.00403636,0.9831828,0.00396385,0.0002104046,0.0009316606],"study_design_scores_gemma":[0.005462148,0.001444631,0.03616959,0.0001199719,0.0001167864,0.00001161683,0.004021405,0.05165475,0.8971248,0.001004423,0.001731722,0.001138192],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903092,0.00003235451,0.002971527,0.0001592616,0.000117534,0.001332158,0.0008039345,0.0001575439,0.004116495],"genre_scores_gemma":[0.9863251,0.0007407148,0.001521752,0.00009502546,0.00004652595,7.332795e-7,0.0001827723,0.00006220977,0.01102521],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08605806,"threshold_uncertainty_score":0.9996271,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03310652925876054,"score_gpt":0.2554018614362568,"score_spread":0.2222953321774962,"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."}}