Next-Generation Sequencing [Neurosurgery Wiki]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
====== Next-Generation Sequencing ======


The first commercialised method of [[DNA sequencing]] was Sanger sequencing. Next-generation sequencing (NGS), also known as high-throughput sequencing, is the catch-all term used to describe a number of different modern sequencing technologies.

Next generation sequencing is a common and versatile tool for biological and medical research. We describe the basic steps for analyzing next generation sequencing data, including quality checking and mapping to a reference genome. We also explain the further data analysis for three common applications of next generation sequencing: variant detection, RNA-seq, and ChIP-seq
((Gogol-Döring A, Chen W. An overview of the analysis of next generation
sequencing data. Methods Mol Biol. 2012;802:249-57. doi:
10.1007/978-1-61779-400-1_16. PubMed PMID: 22130885.
)).
----
===== Retrospective observational studies =====
The purpose of a study by Vivancos Sánchez et al. was to assess the clinical [[impact]] of [[next-generation sequencing]] (NGS), as an increasingly available and advantageous [[tool]], for [[glioblastoma]] patients.
[[Adult patient]]s aged less than 65, and surgically treated for glioblastoma between 2010-2021, were included. Tumor [[sample]]s were analyzed with NGS using the Oncomine Comprehensive v3 (OCA) panel and Ion Reporter Genexus v5.9.1 (Thermo Fisher Scientific). 
Thirty-two patients were included, with a median age of 47.7 years and a median [[overall survival]] of 25 months. Identification of mutations by NGS resulted in a change in diagnosis in two cases. In all patients but one, at least one genetic alteration was detected (median of three per patient), most commonly [[EGFR]] [[amplification]]. In 93.7% of patients, biomarkers that make them potentially eligible for a [[clinical trial]] were found. No [[survival]] differences were seen regarding genetic alterations, although a trend towards better survival for those patients without [[CDK4]] mutation was observed (p = 0.088). 
The use of NGS provides useful information for diagnosis, especially in young patients, and it will probably become valuable for clinical [[decision-making]] as more therapeutic targets and treatments emerge. For the moment, it is crucial for scientific progress to happen
((Vivancos Sánchez C, Esteban Rodríguez MI, Peláez García A, Taravilla-Loma M, Rodríguez-Domínguez V, Rodríguez-Antolín C, Rosas-Alonso R, Losantos-García I, Isla Guerrero A, Gandía-González ML. Clinical Impact of a Next-Generation Sequencing Approach for Glioblastoma Patients. Cancers (Basel). 2025 Feb 22;17(5):744. doi: 10.3390/cancers17050744. PMID: 40075591.)).