CentoMD\u00ae<\/a> Zawiera dane dotycz\u0105ce ponad pi\u0119ciu milion\u00f3w wcze\u015bniej niepublikowanych alleli. Dla ka\u017cdej osoby dostarcza informacji o korelacji genotyp-fenotyp na podstawie przetestowanych przypadk\u00f3w klinicznych.<\/p>\n\u201cChocia\u017c dana rzadka choroba dotyka jedynie niewielki odsetek ludzi, ponad 350 milion\u00f3w ludzi na ca\u0142ym \u015bwiecie cierpi na rzadkie choroby. Diagnozowanie pacjenta z rzadk\u0105 chorob\u0105 mo\u017ce by\u0107 niezwykle z\u0142o\u017cone i trudne, poniewa\u017c nasza zdolno\u015b\u0107 do odkrycia zmienno\u015bci genetycznej w genomie pacjenta wyprzedza nasz\u0105 zdolno\u015b\u0107 do jej interpretacji. Osi\u0105gni\u0119cie ponad miliarda alleli w naszej bazie danych CentoMD\u00ae to ogromny krok milowy i znacz\u0105co poprawi jako\u015b\u0107 ka\u017cdego zestawu danych genetycznych, stanowi\u0105c podstaw\u0119 dalszej opieki medycznej\u201d \u2013 powiedzia\u0142 profesor. Arndt Rolfs, dyrektor generalny CENTOGENE<\/strong>. \u201cDzi\u0119ki tym informacjom dostawcy us\u0142ug opieki zdrowotnej i partnerzy farmaceutyczni b\u0119d\u0105 mogli ustali\u0107 najdok\u0142adniejsz\u0105 diagnoz\u0119 i ostatecznie pom\u00f3c w zniwelowaniu luki mi\u0119dzy diagnoz\u0105 a terapi\u0105\u201d.\u201d<\/p>","protected":false},"excerpt":{"rendered":"CentoMD\u00ae to najwi\u0119ksza na \u015bwiecie globalna baza danych mutacji rzadkich chor\u00f3b genetycznych, obejmuj\u0105ca ponad 3300 powi\u0105zanych fenotyp\u00f3w u pacjent\u00f3w ze 115 kraj\u00f3w. Dowiedz si\u0119 wi\u0119cej o tym, jak dostarcza informacji o korelacji genotyp-fenotyp na podstawie przetestowanych przypadk\u00f3w klinicznych!<\/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-2424","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\n
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