{"id":6064,"date":"2015-10-26T10:02:25","date_gmt":"2015-10-26T09:02:25","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=6064"},"modified":"2019-04-15T19:16:12","modified_gmt":"2019-04-15T17:16:12","slug":"la-sequenciacio-del-futur-ajuda-a-desentrellar-el-passat","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/la-sequenciacio-del-futur-ajuda-a-desentrellar-el-passat\/","title":{"rendered":"La seq\u00fcenciaci\u00f3 del futur ajuda a desentrellar el passat"},"content":{"rendered":"

L\u2019any 2001 es va publicar el primer esborrany del genoma hum\u00e0<\/strong><\/a>. Per aconseguir-ho, van caldre m\u00e9s de deu anys de feina<\/strong>, en qu\u00e8 es van implicar desenes de laboratoris, i assumir un cost total estimat en el miler de milions de d\u00f2lars<\/strong>. Avui, un genoma hum\u00e0 es pot<\/strong> seq\u00fcenciar en una setmana<\/strong> per nom\u00e9s mil euros<\/strong>. Aquest gran aven\u00e7 ha estat possible gr\u00e0cies a l\u2019aparici\u00f3 de les anomenades tecnologies de seq\u00fcenciaci\u00f3 de nova generaci\u00f3<\/strong>, basades en la seq\u00fcenciaci\u00f3 en paral\u00b7lel de milions de fragments d\u2019ADN.<\/p>\n

L\u2019aplicaci\u00f3 de les noves tecnologies de seq\u00fcenciaci\u00f3 ha significat un progr\u00e9s extraordinari per a \u00e0rees molt diverses<\/strong>. Per exemple, dins del camp de la gen\u00f2mica m\u00e8dica<\/strong> s\u2019ha pogut identificar el gen causal de desenes de malalties rares<\/a>, la gen\u00f2mica de poblacions<\/strong> ha descrit com s\u2019estructura la variaci\u00f3 gen\u00e8tica en les poblacions humanes<\/a> i la import\u00e0ncia de les variants gen\u00e8tiques rares, i la gen\u00f2mica funcional<\/strong> ha avan\u00e7at espectacularment en els estudis d\u2019expressi\u00f3 g\u00e8nica i la interacci\u00f3 entre prote\u00efnes i l\u2019ADN.<\/p>\n

Al Servei de Gen\u00f2mica<\/a> del Departament de Ci\u00e8ncies Experimentals i de la Salut, Universitat Pompeu Fabra (DCEXS-UPF)<\/a>, s\u2019ha presentat recentment, en col\u00b7laboraci\u00f3 amb la Unitat d\u2019Antropologia Biol\u00f2gica de la UAB i l\u2019empresa Illumina,un estudi pioner en l\u2019aplicaci\u00f3 de les noves metodologies de seq\u00fcenciaci\u00f3 a la gen\u00e8tica forense<\/strong>. Es tracta de la identificaci\u00f3 d\u2019individus trobats a les fosses comunes de la Guerra Civil<\/strong> Espanyola. En la gen\u00e8tica forense s\u2019analitzen regions del genoma amb repeticions d\u2019un bloc de pocs nucle\u00f2tids<\/strong> (per exemple, el trinucle\u00f2tid AAG), que s\u00f3n molt variables entre persones. La combinaci\u00f3 del nombre de repeticions que portem cadascun de nosaltres per aquestes regions \u00e9s \u00fanica, fet que permet la identificaci\u00f3 d\u2019un individu a partir de restes, aix\u00ed com realitzar tests de paternitat<\/strong>. L\u2019alt grau de degradaci\u00f3 de l\u2019ADN de les restes de les fosses comunes no permetia utilitzar amb garanties aquesta t\u00e8cnica. Ara, gr\u00e0cies al major nombre de regions analitzades i la millor sensibilitat de les tecnologies de nova generaci\u00f3, ja \u00e9s possible identificar individus<\/strong> de les fosses comunes a partir de la comparaci\u00f3 amb parents actuals de fins a segon grau (n\u00e9ts, n\u00e9tes, nebots, nebodes).<\/p>\n

\"\"<\/p>\n","protected":false},"excerpt":{"rendered":"

Les tecnologies de seq\u00fcenciaci\u00f3 massiva ja s\u00f3n d’\u00fas diari i ajuden a con\u00e8ixer els humans des d’\u00e0rees molt diverses.<\/p>\n","protected":false},"author":2,"featured_media":6217,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[30],"tags":[289,654,358],"new-type":[35],"class_list":["post-6064","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ciencia-i-societat","tag-genoma","tag-sequenciacio","tag-upf-ca","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/6064","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=6064"}],"version-history":[{"count":5,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/6064\/revisions"}],"predecessor-version":[{"id":6167,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/6064\/revisions\/6167"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/6217"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=6064"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=6064"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=6064"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=6064"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}