{"id":2449,"date":"2016-09-20T00:00:00","date_gmt":"2016-09-20T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2449"},"modified":"2016-09-20T00:00:00","modified_gmt":"2016-09-20T00:00:00","slug":"centogene-napedza-centomdr-najwieksza-na-swiecie-baze-danych-mutacji-w-rzadkich-chorobach","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogene-drives-centomdr-the-worlds-largest-mutation-data-base-for-rare-diseases\/","title":{"rendered":"CENTOGENE nap\u0119dza CentoMD\u00ae \u2013 najwi\u0119ksz\u0105 na \u015bwiecie baz\u0119 danych mutacji w rzadkich chorobach"},"content":{"rendered":"<p>CentoMD\u00ae, wiod\u0105ca na \u015bwiecie autorska baza danych interpretacji genetycznej cz\u0142owieka, opiera si\u0119 na wiedzy zdobytej dzi\u0119ki naszym globalnym us\u0142ugom diagnostycznym, obejmuj\u0105cym niespotykan\u0105 dot\u0105d r\u00f3\u017cnorodno\u015b\u0107. Dzi\u0119ki nowej wersji CentoMD\u00ae 3.0, spo\u0142eczno\u015b\u0107 medyczna ma teraz dost\u0119p do zaawansowanego modu\u0142u Phenotype-to-Genotype, kt\u00f3ry umo\u017cliwia zapytania oparte na objawach i zwraca geny kandyduj\u0105ce, a tak\u017ce powi\u0105zane warianty le\u017c\u0105ce u podstaw interesuj\u0105cych objaw\u00f3w. Z kolei modu\u0142 Genotype-to-Phenotype oferuje interaktywny interfejs wyszukiwania, umo\u017cliwiaj\u0105cy wyb\u00f3r i filtrowanie gen\u00f3w, transkrypt\u00f3w i wariant\u00f3w. Umo\u017cliwia on u\u017cytkownikom dost\u0119p do szczeg\u00f3\u0142owych danych dotycz\u0105cych wariant\u00f3w i os\u00f3b, opartych na oko\u0142o 2,2 miliona sklasyfikowanych wariant\u00f3w, w tym wariant\u00f3w wykrytych metod\u0105 sekwencjonowania ca\u0142ego eksomu.<\/p>\n<p>\u201cZrozumienie ci\u0119\u017caru, jaki niesie ze sob\u0105 choroba dla pacjenta, zw\u0142aszcza je\u015bli jest to rzadka choroba dziedziczna, to codzienna praca nas, lekarzy. Ujawnienie przyczyny choroby b\u0119dzie mia\u0142o natychmiastowy wp\u0142yw na pacjenta. Dzi\u0119ki CentoMD\u00ae stale ulepszamy interpretacj\u0119 mutacji, osi\u0105gaj\u0105c imponuj\u0105cy odsetek nieopublikowanych jeszcze klinicznie istotnych wariant\u00f3w i mutacji 56%. Wykorzystanie wszystkich dost\u0119pnych informacji pozwala lekarzom diagnozowa\u0107 i leczy\u0107 choroby dziedziczne w znacznie bardziej efektywny, szybszy i ukierunkowany spos\u00f3b\u201d \u2013 stwierdzi\u0142 profesor Arndt Rolfs, dyrektor generalny CENTOGENE.<\/p>","protected":false},"excerpt":{"rendered":"<p>Dzi\u0119ki nowej wersji CentoMD\u00ae 3.0 spo\u0142eczno\u015b\u0107 medyczna uzyska\u0142a dost\u0119p do zaawansowanego modu\u0142u Phenotype-to-Genotype, kt\u00f3ry umo\u017cliwia zapytania oparte na objawach i zwraca geny kandyduj\u0105ce, a tak\u017ce skojarzone warianty le\u017c\u0105ce u podstaw interesuj\u0105cych objaw\u00f3w.<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2449","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CENTOGENE drives CentoMD\u00ae - the world\u2019s largest mutation data base for rare diseases | CENTOGENE<\/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:\/\/www.centogene.com\/pl\/centogene-napedza-centomdr-najwieksza-na-swiecie-baze-danych-mutacji-w-rzadkich-chorobach\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CENTOGENE drives CentoMD\u00ae - the world\u2019s largest mutation data base for rare diseases | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"With the new release of CentoMD\u00ae 3.0, the medical community now has access to an advanced Phenotype-to-Genotype module that enables symptoms-based queries and returns candidate genes as well as associated variants underlying the symptoms of interest.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.centogene.com\/pl\/centogene-napedza-centomdr-najwieksza-na-swiecie-baze-danych-mutacji-w-rzadkich-chorobach\/\" \/>\n<meta property=\"og:site_name\" content=\"CENTOGENE\" \/>\n<meta property=\"article:published_time\" content=\"2016-09-20T00:00:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-diagnostics-priority-disease-03_5a57c07603.webp\" \/>\n\t<meta property=\"og:image:width\" content=\"740\" \/>\n\t<meta property=\"og:image:height\" content=\"416\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/webp\" \/>\n<meta name=\"author\" content=\"admincg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Napisane przez\" \/>\n\t<meta name=\"twitter:data1\" content=\"admincg\" \/>\n\t<meta name=\"twitter:label2\" content=\"Szacowany czas czytania\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minuta\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centogene-drives-centomdr-the-worlds-largest-mutation-data-base-for-rare-diseases\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centogene-drives-centomdr-the-worlds-largest-mutation-data-base-for-rare-diseases\\\/\"},\"author\":{\"name\":\"admincg\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#\\\/schema\\\/person\\\/d9b8738539a9ddb5de5a02a909d40b8b\"},\"headline\":\"CENTOGENE drives CentoMD\u00ae &#8211; 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