Conferencia y eventos externos
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Examinando Conferencia y eventos externos por Autor "Arcos-Burgos, M."
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- ÍtemSolo MetadatosSAT0015 Novel and rare mutations linked to polyautoimmunity(2016-06) Johar, A.; Sarmiento-Monroy, J.C.; Rojas-Villarraga, A.; Silva-Lara, M.F.; Patel, H.R.; Mantilla, R.D.; Mastronardi, C.; Arcos-Burgos, M.; Anaya, Juan-ManuelBackground Polyautoimmunity (i.e., the presence of two or more autoimmune diseases in a single patient) and familial autoimmunity (i.e., diverse autoimmune diseases in a nuclear family) represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity (1–3). Whole Exome Sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patterns of functional protein coding and splice variants
- ÍtemSolo MetadatosSAT0055 Exploration of risk factors for rheumatoid arthritis using advance recursive partitioning approach(2014-06) Molano González, Nicolás; Arcos-Burgos, M.; Rojas-Villarraga, A.; Anaya, Juan-ManuelBackground A major challenge for rheumatoid arthritis (RA) research is the detection of subjects at risk. The tradeoff between complexity and interpretability is a key issue in the application of predictive models. Advance recursive partitioning (tree-based) approach (ARPA) is widely used in predictive analyses as it accounts for non-linear effects, offers fast solutions for hidden complex substructure and provides truly non-biased, statistically significant analyses of high dimensional, seemingly unrelated data.
- ÍtemSolo MetadatosTHU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture(2014-06) Arcos-Burgos, M.; Johar, A.; Amaya-Amaya, J.; Mantilla, R.D.; Andrews, D.; Rojas-Villarraga, A.; Anaya, Juan-ManuelBackground The multiple autoimmune syndrome (MAS) is defined as a condition characterized by the presence of three or more autoimmune diseases (ADs) in one patient. We demonstrated that MAS identifies extreme forms of ADs and is frequently clustered in families. MAS phenotypes present in families often displays Mendelian segregation ratios, representing crucial evidence for identifying major genes associated with autoimmunity.