{"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\/it\/education\/sysndd-database\/","title":{"rendered":"Database SysNDD"},"content":{"rendered":"<h2 class=\"wp-block-heading\">SysNDD: molto pi\u00f9 di un semplice elenco di geni! Ricerca di curatori esperti in NDD<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Il nuovo database SysNDD (<a href=\"https:\/\/sysndd.dbmr.unibe.ch\">https:\/\/sysndd.dbmr.unibe.ch<\/a>) ha sostituito il suo predecessore SysID come database aggiornato regolarmente, <strong>database curato manualmente da esperti<\/strong> relativo all'NDD <strong>geni e fenotipi correlati<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 SysNDD contiene attualmente oltre 1560 geni NDD confermati e oltre 1300 geni candidati pubblicati, oltre a informazioni curate sulle malattie associate (compresi i collegamenti a OMIM, Orphanet e PubMed), sui fenotipi (sintesi clinica e termini HPO) e sui modelli di ereditariet\u00e0. Dispone inoltre di molteplici <strong>opzioni di confronto e filtraggio dei dati<\/strong>, rendendolo un <strong>strumento prezioso per numerose questioni cliniche, diagnostiche e di ricerca<\/strong>. La sua interfaccia di programmazione delle applicazioni (API) consente l'accesso programmatico ai dati e permette di effettuare analisi sofisticate e di integrarsi facilmente con altri strumenti e flussi di lavoro.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Nei prossimi mesi e anni cercheremo di procedere a una rivalutazione e a una selezione di tutti i contributi raccolti negli ultimi 12 anni. A tal fine <strong>Stiamo cercando curatori esperti<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 In che cosa mi impegno come curatore esperto? a) Registrazione nello strumento di curatela SysNDD b) Partecipazione a un <strong>workshop online<\/strong> (1-2 ore) integrata da tutorial online e manuali scritti di curatela. c) Ogni curatore ricever\u00e0 un elenco di contributi da curare tramite il <strong>strumento di curatela<\/strong>. <strong>Geni preferiti<\/strong> pu\u00f2 essere indicato e sar\u00e0 preso in considerazione ai fini dell\u2019assegnazione, che altrimenti avverrebbe in modo casuale. d) Il carico di lavoro per ciascun curatore (numero di voci) sar\u00e0 determinato sulla base di un\u2019attuale fase di test volta a stimare la durata media e i valori minimi e massimi, nonch\u00e9 lo sforzo richiesto per ciascuna voce. d) <strong>La riorganizzazione dei dati \u00e8 un\u2019operazione che va effettuata una sola volta<\/strong>, ma i curatori potrebbero essere disposti a partecipare alla gestione e all'aggiornamento a lungo termine del database.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Quali sono i vantaggi del volontariato? a) <strong>Voci preferite<\/strong> pu\u00f2 essere curata da esperti del settore. b) La curatela offre un\u2019opportunit\u00e0 unica per ottenere un <strong>panoramica<\/strong> sul panorama genetico e clinico dei disturbi dello sviluppo neurologico (NDD) e per scoprire geni e malattie che forse non avete mai incontrato prima. c) Il vostro lavoro \u00e8 un <strong>prezioso contributo a un\u2019iniziativa comune ITHACA<\/strong> per un catalogo NDD condiviso a livello europeo che sar\u00e0 strettamente collegato a Orphanet. d) <strong>Coautorialit\u00e0<\/strong>(s) su eventuali futuri manoscritti SysNDD e <strong>ringraziamenti<\/strong> sul sito web SysNDD.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Se desiderate partecipare o avete domande, vi preghiamo di contattare una delle seguenti persone:<\/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>Il database SysNDD si basa sul database che lo ha preceduto, SysID (<\/strong><a href=\"https:\/\/www.sysid.dbmr.unibe.ch\/\"><strong>https:\/\/www.sysid.dbmr.unibe.ch\/<\/strong><\/a><strong>, in precedenza: <a href=\"http:\/\/sysid.cmbi.umcn.nl\/\">http:\/\/sysid.cmbi.umcn.nl\/<\/a>). Contiene un catalogo, aggiornato manualmente, dei geni gi\u00e0 identificati implicati nei disturbi dello sviluppo neurologico (NDD) e classificati in geni primari e geni candidati in base al livello di evidenza scientifica a loro sostegno.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Inoltre, vengono fornite informazioni curate manualmente relative alle malattie e ai fenotipi associati. Per consentire l\u2019interoperabilit\u00e0 e la mappatura tra database orientati ai geni, ai fenotipi o alle malattie, il nostro approccio si basa su unit\u00e0 curate composte da gene-eredit\u00e0-malattia, le cosiddette entit\u00e0. SysNDD viene aggiornato ogni 3-4 mesi e pu\u00f2 essere utilizzato per un ampio spettro di attivit\u00e0 sia nel campo della ricerca che in quello diagnostico.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Uno dei nostri obiettivi a lungo termine \u00e8 quello di integrare i dati SysID \/ SysNDD in altri database dedicati alle relazioni tra geni e malattie, come l\u2019ontologia Orphanet.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">SysID \u00e8 stato inizialmente ideato da Annette Schenck (Radboud University Center Nijmegen, Paesi Bassi) e Christiane Zweier (Dipartimento di Genetica Umana dell\u2019Universit\u00e0 e dell\u2019Ospedale Universitario di Berna, Svizzera; in precedenza: Istituto di Genetica Umana, Ospedale Universitario di Erlangen), FAU Erlangen-Norimberga, Germania). SysNDD \u00e8 stato realizzato ed \u00e8 gestito da Christiane Zweier e Bernt Popp (medico senior presso il Berlin Institute of Health (BIH) della Charit\u00e9, Germania, e ricercatore presso l\u2019Istituto di Genetica Umana dell\u2019Ospedale Universitario di Lipsia, Germania). CZ ha partecipato alla creazione e all\u2019aggiornamento di SysID sin dal suo avvio nel 2009. Si occupa di eseguire e coordinare la curatela e gli aggiornamenti. BP ha sviluppato e programmato il nuovo database SysNDD e integrer\u00e0 ulteriori funzionalit\u00e0, tra cui le varianti associate e le analisi di rete, nei futuri aggiornamenti.<\/p>\n\n\n\n<a class=\"wp-block-ernithaca-useful-links\" href=\"https:\/\/sysndd.org\/\"><div class=\"documents-body\">Sito web del database 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\/it\/education\/sysndd-database\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\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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