es | en | pt | fr
    • Presentación
    • Países
    • Instituciones
    • Participa
        JavaScript is disabled for your browser. Some features of this site may not work without it.
        Ver ítem 
        •   Inicio
        • Colombia
        • Universidades
        • Universidad Jorge Tadeo Lozano (Colombia)
        • Ver ítem
        •   Inicio
        • Colombia
        • Universidades
        • Universidad Jorge Tadeo Lozano (Colombia)
        • Ver ítem

        Clinical interpretation and management of genetic variants

        Registro en:
        2452-302X
        https://doi.org/10.1016/j.jacbts.2020.05.013
        http://hdl.handle.net/20.500.12010/15364
        https://doi.org/10.1016/j.jacbts.2020.05.013
        http://repositorioslatinoamericanos.uchile.cl/handle/2250/3502898
        Autor
        Marian, Ali J.
        Institución
        • Universidad Jorge Tadeo Lozano (Colombia)
        Resumen
        Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances in the short-read sequencing technologies, despite some shortcomings, have enabled identification of the vast majority of the genetic variants in each genome. The major challenge is in identifying the pathogenic variants in cardiovascular diseases. The yield of the genetic testing has been limited because of technological shortcomings and our incomplete understanding of the genetic basis of cardiovascular disorders. To advance the field, a shift to long-read sequencing platforms is necessary. In addition, to discern the pathogenic variants, genetic diseases should be considered as a continuum and the genetic variants as probabilistic factors with a gradient of effect sizes. Moreover, disease-specific physician-scientists with expertise in the clinical medicine and molecular genetics are best equipped to discern functional and clinical significance of the genetic variants. The changes would be expected to enhance clinical utilities of the genetic discoveries. (J Am Coll Cardiol Basic Trans Science 2020;5:1029–42) © 2020 The Author. Published by Elsevier on behalf of the American College of Cardiology Foundation. This is an open access article under the CC BY license
        Materias
        Clinical Interpretation
        Management of Genetic Variants

        Mostrar el registro completo del ítem


        Red de Repositorios Latinoamericanos
        + de 8.000.000 publicaciones disponibles
        500 instituciones participantes
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Ingreso Administradores
        Colecciones destacadas
        • Tesis latinoamericanas
        • Tesis argentinas
        • Tesis chilenas
        • Tesis peruanas
        Nuevas incorporaciones
        • Argentina
        • Brasil
        • Colombia
        • México
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Red de Repositorios Latinoamericanos | 2006-2018
         

        EXPLORAR POR

        Instituciones
        Fecha2011 - 20202001 - 20101951 - 20001901 - 19501800 - 1900

        Explorar en Red de Repositorios

        Países >
        Tipo de documento >
        Fecha de publicación >
        Instituciones >

        Red de Repositorios Latinoamericanos
        + de 8.000.000 publicaciones disponibles
        500 instituciones participantes
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Ingreso Administradores
        Colecciones destacadas
        • Tesis latinoamericanas
        • Tesis argentinas
        • Tesis chilenas
        • Tesis peruanas
        Nuevas incorporaciones
        • Argentina
        • Brasil
        • Colombia
        • México
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Red de Repositorios Latinoamericanos | 2006-2018