{"id":840,"date":"2022-02-20T14:25:11","date_gmt":"2022-02-20T13:25:11","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=840"},"modified":"2024-10-24T16:17:13","modified_gmt":"2024-10-24T14:17:13","slug":"sysndd-database","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/es\/education\/sysndd-database\/","title":{"rendered":"Base de datos SysNDD"},"content":{"rendered":"<h2 class=\"wp-block-heading\">SysNDD: \u00a1mucho m\u00e1s que una simple lista de genes! Convocatoria para curadores expertos en NDD<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 La nueva base de datos SysNDD (<a href=\"https:\/\/sysndd.dbmr.unibe.ch\">https:\/\/sysndd.dbmr.unibe.ch<\/a>) ha sustituido a su predecesor, SysID, como una herramienta que se actualiza peri\u00f3dicamente, <strong>base de datos seleccionada manualmente por expertos<\/strong> en relaci\u00f3n con la NDD <strong>genes y fenotipos relacionados<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 SysNDD contiene actualmente m\u00e1s de 1.560 genes NDD confirmados y m\u00e1s de 1.300 genes candidatos publicados, adem\u00e1s de informaci\u00f3n revisada sobre enfermedades asociadas (incluidos enlaces a OMIM, Orphanet y PubMed), fenotipos (resumen cl\u00ednico y t\u00e9rminos HPO) y patrones de herencia. Tambi\u00e9n cuenta con m\u00faltiples <strong>opciones de comparaci\u00f3n y filtrado de datos<\/strong>, lo que lo convierte en un <strong>una herramienta valiosa para abordar numerosas cuestiones cl\u00ednicas, diagn\u00f3sticas y de investigaci\u00f3n<\/strong>. Su interfaz de programaci\u00f3n de aplicaciones (API) permite el acceso program\u00e1tico a los datos y facilita la realizaci\u00f3n de an\u00e1lisis sofisticados, as\u00ed como una f\u00e1cil integraci\u00f3n con otras herramientas y flujos de trabajo.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Durante los pr\u00f3ximos meses y a\u00f1os, intentaremos reevaluar y seleccionar todas las aportaciones recopiladas durante los \u00faltimos 12 a\u00f1os. Para ello, <strong>Buscamos comisarios expertos<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 \u00bfEn qu\u00e9 me ofrezco como voluntario en mi calidad de comisario experto? a) Inscripci\u00f3n en la herramienta de comisariado SysNDD b) Asistir a un <strong>taller en l\u00ednea<\/strong> (1-2 h), complementadas con tutoriales en l\u00ednea y manuales de selecci\u00f3n escritos. c) Cada seleccionador recibir\u00e1 una lista de propuestas que deber\u00e1 seleccionar a trav\u00e9s de la <strong>herramienta de selecci\u00f3n<\/strong>. <strong>Genes favoritos<\/strong> se podr\u00e1 indicar y se tendr\u00e1 en cuenta para la asignaci\u00f3n, que por lo dem\u00e1s ser\u00e1 aleatoria. d) La carga de trabajo por comisario (n\u00famero de entradas) se determinar\u00e1 bas\u00e1ndose en una fase de pruebas actual para estimar la duraci\u00f3n media y los valores m\u00ednimo y m\u00e1ximo, as\u00ed como el esfuerzo por entrada. d) <strong>La reorganizaci\u00f3n de los datos es una tarea que solo hay que realizar una vez<\/strong>, pero es posible que los curadores est\u00e9n dispuestos a participar en la gesti\u00f3n y actualizaci\u00f3n a largo plazo de la base de datos.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 \u00bfQu\u00e9 ventajas tengo por hacer voluntariado? a) <strong>Entradas favoritas<\/strong> puede ser seleccionada por expertos en la materia. b) La selecci\u00f3n ofrece una oportunidad \u00fanica para obtener un <strong>resumen<\/strong> sobre el panorama gen\u00e9tico y cl\u00ednico de los trastornos del desarrollo neurol\u00f3gico (NDD) y para conocer genes y enfermedades con los que quiz\u00e1 no te hayas topado antes. c) Tu trabajo es un <strong>una valiosa contribuci\u00f3n al esfuerzo conjunto de ITHACA<\/strong> para un cat\u00e1logo europeo consensuado de NDD que estar\u00e1 estrechamente vinculado a Orphanet. d) <strong>Coautor\u00eda<\/strong>(s) sobre posibles manuscritos futuros de SysNDD y <strong>agradecimiento<\/strong> en la p\u00e1gina web de SysNDD.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Si est\u00e1s interesado en participar o tienes alguna duda, ponte en contacto con cualquiera de las siguientes personas:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"mailto:Christiane.zweier@insel.ch\">Christiane.zweier@insel.ch<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"mailto:bernt.popp@charite.de\">bernt.popp@charite.de<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"mailto:anne.hugon@aphp.fr\">anne.hugon@aphp.fr<\/a> <\/p>\n\n\n\n<div style=\"height:60px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>La base de datos SysNDD se basa en su predecesora, SysID (<\/strong><a href=\"https:\/\/www.sysid.dbmr.unibe.ch\/\"><strong>https:\/\/www.sysid.dbmr.unibe.ch\/<\/strong><\/a><strong>, anteriormente: <a href=\"http:\/\/sysid.cmbi.umcn.nl\/\">http:\/\/sysid.cmbi.umcn.nl\/<\/a>). Contiene un cat\u00e1logo, elaborado manualmente, de genes publicados relacionados con los trastornos del desarrollo neurol\u00f3gico (NDD) y clasificados en genes primarios y genes candidatos seg\u00fan el grado de evidencia subyacente.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Adem\u00e1s, se proporciona informaci\u00f3n seleccionada manualmente sobre enfermedades y fenotipos asociados. Para permitir la interoperabilidad y la correspondencia entre bases de datos orientadas a genes, fenotipos o enfermedades, centramos nuestro enfoque en unidades curadas de \u00abgen-herencia-enfermedad\u00bb, denominadas \u00abentidades\u00bb. SysNDD se actualiza cada 3-4 meses y puede utilizarse para un amplio abanico de tareas, tanto en el \u00e1mbito de la investigaci\u00f3n como en el del diagn\u00f3stico.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Uno de nuestros objetivos a largo plazo es incorporar los datos de SysID \/ SysNDD en otras bases de datos sobre relaciones entre genes y enfermedades, como la ontolog\u00eda Orphanet.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">SysID fue concebido inicialmente por Annette Schenck (Centro Universitario Radboud de Nimega, Pa\u00edses Bajos) y Christiane Zweier (Departamento de Gen\u00e9tica Humana de la Universidad y el Hospital Universitario de Berna, Suiza; anteriormente: Instituto de Gen\u00e9tica Humana del Hospital Universitario de Erlangen), FAU Erlangen-N\u00fcrnberg, Alemania). SysNDD ha sido creado y es mantenido por Christiane Zweier y Bernt Popp (m\u00e9dico jefe del Instituto de Salud de Berl\u00edn (BIH) en la Charit\u00e9, Alemania, e investigador del Instituto de Gen\u00e9tica Humana del Hospital Universitario de Leipzig, Alemania). CZ ha participado en la creaci\u00f3n y actualizaci\u00f3n de SysID desde sus inicios en 2009. Se encarga de llevar a cabo y coordinar la curaci\u00f3n y las actualizaciones. BP desarroll\u00f3 y program\u00f3 la nueva base de datos SysNDD e integrar\u00e1 nuevas funcionalidades, como variantes asociadas y an\u00e1lisis de redes, en futuras actualizaciones.<\/p>\n\n\n\n<a class=\"wp-block-ernithaca-useful-links\" href=\"https:\/\/sysndd.org\/\"><div class=\"documents-body\">P\u00e1gina web de la base de datos SysNDD<\/div><div class=\"icon-circle\"><span class=\"icon-ernithaca-click\"><\/span><\/div><\/a>\n\n\n\n<div style=\"height:60px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1885\" height=\"872\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-1.png\" alt=\"\" class=\"wp-image-841\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-1.png 1885w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-1-600x278.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-1-768x355.png 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-1-1536x711.png 1536w\" sizes=\"auto, (max-width: 1885px) 100vw, 1885px\" \/><\/figure>\n\n\n\n<div style=\"height:60px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1901\" height=\"914\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-2.png\" alt=\"\" class=\"wp-image-842\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-2.png 1901w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-2-600x288.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-2-768x369.png 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/sysndd-screenshot-2-1536x739.png 1536w\" sizes=\"auto, (max-width: 1901px) 100vw, 1901px\" \/><\/figure>","protected":false},"excerpt":{"rendered":"<p>SysNDD: more than just a gene list! A call for NDD expert curators &#8211; The new SysNDD database (https:\/\/sysndd.dbmr.unibe.ch) has replaced its predecessor SysID as a regularly updated, manually expert curated database on NDD associated genes and related phenotypes. &#8211; SysNDD currently contains &gt;1560 confirmed NDD genes and &gt;1300 published candidate genes plus curated information [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":6023,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-pages\/template-page-generic.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-840","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>SysNDD Database - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/es\/education\/sysndd-database\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"SysNDD Database - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"SysNDD: more than just a gene list! 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