{"id":16076,"date":"2023-10-14T04:32:14","date_gmt":"2023-10-14T04:32:14","guid":{"rendered":"https:\/\/www.lifescienceart.com\/?p=16076"},"modified":"2023-10-14T04:32:14","modified_gmt":"2023-10-14T04:32:14","slug":"gapless-human-genome-sequenced","status":"publish","type":"post","link":"https:\/\/www.lifescienceart.com\/cs\/science\/genetics\/gapless-human-genome-sequenced\/","title":{"rendered":"Bez mezer: V\u011bdci zmapovali cel\u00fd lidsk\u00fd genom"},"content":{"rendered":"<h2 class=\"wp-block-heading\">V\u011bdci kone\u010dn\u011b sekvenovali &#8220;bezmezerov\u00fd&#8221; lidsk\u00fd genom<\/h2>\n\n<h2 class=\"wp-block-heading\">Dek\u00f3dov\u00e1n\u00ed chyb\u011bj\u00edc\u00edch \u010d\u00e1st\u00ed<\/h2>\n\n<p>T\u00e9m\u011b\u0159 dv\u011b desetilet\u00ed v\u011bdci pracovali na dokon\u010den\u00ed sekvence lidsk\u00e9ho genomu, pl\u00e1nu na\u0161\u00ed genetick\u00e9 v\u00fdbavy. Nyn\u00ed kone\u010dn\u011b dos\u00e1hli tohoto miln\u00edku a rozlu\u0161tili chyb\u011bj\u00edc\u00edch osm procent na\u0161ich gen\u016f. Tento pr\u016flom otev\u00edr\u00e1 cestu k nov\u00fdm objev\u016fm v lidsk\u00e9 evoluci a nemoci.<\/p>\n\n<h2 class=\"wp-block-heading\">V\u00fdznam bezmezerov\u00e9ho genomu<\/h2>\n\n<p>M\u00edt kompletn\u00ed sekvenci lidsk\u00e9ho genomu je z n\u011bkolika d\u016fvod\u016f z\u00e1sadn\u00ed. Umo\u017e\u0148uje v\u011bdc\u016fm:<\/p>\n\n<ul class=\"wp-block-list\">\n<li>identifikovat genetick\u00e9 variace, kter\u00e9 p\u0159isp\u00edvaj\u00ed k nemocem<\/li>\n<li>porozum\u011bt, jak lid\u00e9 vyvinuli jedine\u010dn\u00e9 vlastnosti<\/li>\n<li>vyvinout personalizovan\u00e9 l\u00e9ka\u0159sk\u00e9 o\u0161et\u0159en\u00ed<\/li>\n<\/ul>\n\n<h2 class=\"wp-block-heading\">Projekt mapov\u00e1n\u00ed genomu<\/h2>\n\n<p>Konsorcium Telomere-to-Telomere, spolupr\u00e1ce t\u00e9m\u011b\u0159 100 v\u00fdzkumn\u00edk\u016f, vedlo \u00fasil\u00ed o sekvenov\u00e1n\u00ed bezmezerov\u00e9ho lidsk\u00e9ho genomu. Jejich pr\u00e1ce byla zve\u0159ejn\u011bna v \u010dasopise Science.<\/p>\n\n<h2 class=\"wp-block-heading\">Proces sekvenov\u00e1n\u00ed<\/h2>\n\n<p>Dek\u00f3dov\u00e1n\u00ed genomu je jako \u0159e\u0161en\u00ed h\u00e1danky. V\u011bdci DNA nasekaj\u00ed na fragmenty, p\u0159e\u010dtou jednotliv\u00e1 p\u00edsmena v ka\u017ed\u00e9m fragmentu a pot\u00e9 je sestav\u00ed ve spr\u00e1vn\u00e9m po\u0159ad\u00ed.<\/p>\n\n<h2 class=\"wp-block-heading\">Pokroky v technologii sekvenov\u00e1n\u00ed DNA<\/h2>\n\n<p>Na po\u010d\u00e1tku 21. stolet\u00ed mohla technologie sekvenov\u00e1n\u00ed gen\u016f produkovat pouze kr\u00e1tk\u00e9 fragmenty genetick\u00e9ho k\u00f3du. Dnes maj\u00ed v\u011bdci p\u0159\u00edstup k sekvenovac\u00edm stroj\u016fm &#8220;dlouh\u00e9ho \u010dten\u00ed&#8221;, kter\u00e9 dek\u00f3duj\u00ed v\u011bt\u0161\u00ed \u010d\u00e1sti genetick\u00e9ho materi\u00e1lu najednou, co\u017e jim umo\u017e\u0148uje vyplnit chyb\u011bj\u00edc\u00ed mezery.<\/p>\n\n<h2 class=\"wp-block-heading\">L\u00e9ka\u0159sk\u00e9 implikace<\/h2>\n\n<p>Kompletn\u00ed sekvence lidsk\u00e9ho genomu m\u00e1 v\u00fdznamn\u00e9 l\u00e9ka\u0159sk\u00e9 d\u016fsledky. M\u016f\u017ee pomoci l\u00e9ka\u0159\u016fm:<\/p>\n\n<ul class=\"wp-block-list\">\n<li>identifikovat genetick\u00e9 variace, kter\u00e9 vedou k nemocem<\/li>\n<li>vyvinout c\u00edlen\u00e9 terapie pro specifick\u00e9 genetick\u00e9 stavy<\/li>\n<li>zlep\u0161it prevenci a diagnostiku nemoc\u00ed<\/li>\n<\/ul>\n\n<h2 class=\"wp-block-heading\">Evolu\u010dn\u00ed poznatky<\/h2>\n\n<p>Bezmezerov\u00fd genom tak\u00e9 poskytuje cenn\u00e9 poznatky o lidsk\u00e9 evoluci. Porovn\u00e1n\u00edm na\u0161eho genomu s genomem na\u0161ich p\u0159edk\u016f lidoop\u016f mohou v\u011bdci l\u00e9pe pochopit, jak jsme vyvinuli jedine\u010dn\u00e9 vlastnosti, kter\u00e9 n\u00e1s od nich odli\u0161uj\u00ed.<\/p>\n\n<h2 class=\"wp-block-heading\">Omezen\u00ed a budouc\u00ed sm\u011bry<\/h2>\n\n<p>Sekvenovan\u00fd genom p\u0159edstavuje pouze jednoho jedince, odvozen\u00e9ho z tk\u00e1\u0148ov\u00fdch bun\u011bk, kter\u00e9 obsahuj\u00ed pouze otcovsk\u00e9 chromozomy. Dal\u0161\u00edm krokem je sekvenovat genetick\u00e9 informace s otcovsk\u00fdmi i mate\u0159sk\u00fdmi chromozomy.<\/p>\n\n<p>T\u00fdm tak\u00e9 pl\u00e1nuje sekvenovat genomy lid\u00ed z cel\u00e9ho sv\u011bta, aby zachytil celou rozmanitost lidsk\u00e9 genetiky.<\/p>\n\n<h2 class=\"wp-block-heading\">Z\u00e1v\u011br<\/h2>\n\n<p>Dokon\u010den\u00ed bezmezerov\u00e9ho lidsk\u00e9ho genomu je pr\u016flomov\u00fd \u00fasp\u011bch, kter\u00fd zrevolucionuje na\u0161e ch\u00e1p\u00e1n\u00ed lidsk\u00e9ho zdrav\u00ed a evoluce. Otev\u00edr\u00e1 nov\u00e9 cesty pro l\u00e9ka\u0159sk\u00fd v\u00fdzkum, prevenci nemoc\u00ed a personalizovanou medic\u00ednu.<\/p>","protected":false},"excerpt":{"rendered":"<p>V\u011bdci kone\u010dn\u011b sekvenovali &#8220;bezmezerov\u00fd&#8221; lidsk\u00fd genom Dek\u00f3dov\u00e1n\u00ed chyb\u011bj\u00edc\u00edch \u010d\u00e1st\u00ed T\u00e9m\u011b\u0159 dv\u011b desetilet\u00ed v\u011bdci pracovali na dokon\u010den\u00ed sekvence lidsk\u00e9ho genomu, pl\u00e1nu na\u0161\u00ed genetick\u00e9 v\u00fdbavy. Nyn\u00ed kone\u010dn\u011b dos\u00e1hli tohoto miln\u00edku a rozlu\u0161tili&hellip;<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1628],"tags":[21347,2112,19184,18525,1560],"class_list":["post-16076","post","type-post","status-publish","format-standard","hentry","category-genetics","tag-evolutionary-insights","tag-medical-research","tag-human-genome","tag-personalized-medicine","tag-genome-sequencing"],"_links":{"self":[{"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/posts\/16076","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/comments?post=16076"}],"version-history":[{"count":1,"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/posts\/16076\/revisions"}],"predecessor-version":[{"id":16077,"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/posts\/16076\/revisions\/16077"}],"wp:attachment":[{"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/media?parent=16076"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/categories?post=16076"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.lifescienceart.com\/cs\/wp-json\/wp\/v2\/tags?post=16076"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}