{"id":102763,"date":"2010-12-07T00:00:00","date_gmt":"2010-12-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/desarrollo-de-nuevas-metodologias-para-el-analisis-bioinformatico-de-genomas\/"},"modified":"2010-12-07T00:00:00","modified_gmt":"2010-12-07T00:00:00","slug":"desarrollo-de-nuevas-metodologias-para-el-analisis-bioinformatico-de-genomas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/biologia-humana\/desarrollo-de-nuevas-metodologias-para-el-analisis-bioinformatico-de-genomas\/","title":{"rendered":"Desarrollo de nuevas metodolog\u00edas para el analisis bioinformatico de genomas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Xos\u00e9 Mar\u00eda Fern\u00e1ndez Su\u00e1rez <\/strong><\/h2>\n<p>La secuenciaci\u00f3n del genoma humano ha permitido el desarrollo de numerosas tecnolog\u00edas que permiten acelerar la identificaci\u00f3n de genes implicados en distintas patolog\u00edas humanas, incluyendo enfermedades hereditarias, neurodegenerativas, cardiovasculares y oncol\u00f3gicas. Las tecnolog\u00edas de ultrasecuenciaci\u00f3n permiten la detecci\u00f3n de variaci\u00f3n gen\u00e9tica de animales endog\u00e1micos como la rata hipertensa shr. La comparaci\u00f3n con el genoma de referencia de la rata brown norway (bn) ha permitido identificar m\u00e1s de 3,6 millones de polimorfismos de un \u00fanico nucle\u00f3tido y m\u00e1s de 340.000 polimorfismos de peque\u00f1as inserciones\/deleciones diferenciando ambas cepas. Numerosos genes (788) han sufrido mutaciones en la secuencia codificante en la cepa shr (60 de ellos completamente ausentes en esta cepa), y algunos de ellos, como cd36, previamente implicados en hipertensi\u00f3n. Los cambios identificados facilitar\u00e1n futuros estudios sobre la base gen\u00e9tica del fenotipo de este modelo animal. Asimismo, la presencia de polimorfismos en regiones asociadas a cambios en la expresi\u00f3n g\u00e9nica entre shr y bn, podr\u00eda explicar las diferencias en la regulaci\u00f3n de la expresi\u00f3n g\u00e9nica entre ambas cepas. Estos datos refuerzan la utilidad de las t\u00e9cnicas de resecuenciaci\u00f3n de modelos animales para profundizar en el conocimiento de las bases moleculares de la enfermedad humana.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Desarrollo de nuevas metodolog\u00edas para el analisis bioinformatico de genomas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Desarrollo de nuevas metodolog\u00edas para el analisis bioinformatico de genomas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Xos\u00e9 Mar\u00eda Fern\u00e1ndez Su\u00e1rez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Oviedo<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/07\/2010<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Mar\u00eda  Gloria Velasco Cotarelo<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Antonio  manuel Fueyo silva <\/li>\n<li>ignacio Varela egocheaga (vocal)<\/li>\n<li>ruben Cabanillas farpon (vocal)<\/li>\n<li>Juan Cadi\u00f1anos ba\u00f1ales (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Xos\u00e9 Mar\u00eda Fern\u00e1ndez Su\u00e1rez La secuenciaci\u00f3n del genoma humano ha permitido el desarrollo de numerosas tecnolog\u00edas que [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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