Next generation sequencing in diagnostic

Abstract

Metode sekvenciranja novih generacija su najznačajnije otkriće u znanosti biologije u proteklih 40 godina. Nakon Sangerove metode koju nazivamo metodom sekvenciranja prve generacije, razvijaju se metode druge i treće generacije sekvenciranja. Metode sekvenciranja novih generacija daju rezultate u sve kraćem vremenskom periodu te su svakim danom sve učinkovitije. Danas je moguće sekvencirati tisuće i tisuće genoma spomenutim metodama, što omogućava otvaranje mnogih puteva u raznim područjima znanosti i uvelike pridonosi kvaliteti života. Ove metode su veoma značajne u području dijagnostike, tako što omogućuju brže i učinkovitije otkriće raznih kromosomskih nepravilnosti koje dovode do nasljednih bolesti, čestih bolesti u nekoj populaciji te malignih tumora. U ovom radu izložen je kratak povijesni pregled razvoja raznih metoda sekvenciranja kroz zadnja desetljeća , njihova uporaba u raznim područjima, ponajviše njihov doprinos u kliničkim laboratorijima i predstavljanje tih metoda kao novog alata u otkrivanju uzroka mnogih bolesti.New generation-sequencing methods are the most important discovery in biology in the past 40 years. After Sanger sequencing, which is also called the first-generation sequencing, the second and the third-generation sequencing are developed. The new-generation sequencing methods are showing results in shorter time periods and are getting more efficient day by day. Today it is possible to sequence thousands and thousands of genoms with these methods, and this opens many pathways in many areas of science and contribute to the quality lives. These methods are highly significant in many fields of diagnostics, because they help to determine chromosomes irregularities, which cause hereditary diseases, common diseases in a population, and malignant tumors faster and more efficient. This work presents a short historical overview of the development of various sequencing methods through the last decade , their use in various fields , particularly their contribution to clinical laboratories and presentation of these methods as a new tool in detecting causes of many diseases