Next-generation sequencing – a new era in hematological malignancies

by, A. Perolla, P.Pulluqi, A.Ivanaj, E.Calliku, A.Cili, T.Caja

Abstract

In order to determinate an accurate order of nucleotides in our chromosomes and in our genome a new era of DNA exploration has been developed, and this is DNA sequencing. The knowledge of DNA sequences has accelerated medical researches and is applied in a large number of fields. In the early 1970 DNA sequencing has been done using two dimensional chromatography but now, several new methods of DNA sequencing is been developed. Next-generation sequencing (NGS), the massively parallel sequencing technology enables the medical researchers to perform explorations at a level never achieved before. NGS is a revolution in the study of hematological malignancies and is filling the gap of unknown pathways and to uncover specific ways of treatment. There are a lot of studies and publications based on this “new era” technology bringing the need of this technology to be part of the clinical routine. The aim of NGS is the discovery of the genetic mutations in the hematological neoplasms, and to be able to create the best individualized target therapy for the hematological patients. NGS incudes different methods that make possible the exploration of the whole human genome but Whole Genome Sequencing (WGS), the sequencing of all exons with Whole Exome Sequencing (WES) and Sequencing of messaging RNA are the most important methods used.