Speaker Abstract RCMM 2017: Dr. Chiam Chun Wei

Overcome common NGS challenges- From research to diagnostics

QIAGEN Biotechnology Malaysia Sdn Bhd

Level 9, Tower 8, Avenue 5, Horizon Phase 2, Bangsar South, No.8 Jalan Kerinchi, 59200 Kuala Lumpur, Malaysia

* Presenter’s email: chunwei.chiam@qiagen.com

Abstract

Calibri 10pt maximum of 200 words

Since the completion of the 13-year-long Human Genome Project in 2003 at the cost of USD 3 billion, the race has been on for affordable and faster DNA sequencing methods. As we see the move from the traditional Sanger sequencing to next-generation sequencing (NGS) technology, an increasing number of clinical as well as research labs are adopting this technology.

NGS has revolutionized genomic research with its unique approach to sequencing, thus allowing it to be utilized for new and exciting applications, such as single cell analysis, liquid biopsy research, circulating-free DNA (cfDNA) studies, metagenomics and targeted sequencing.

Targeted sequencing is a rapid and cost-effective way to detect both known and novel variants in selected sets of genes or genomic regions. With targeted sequencing, only a subset of genes or regions of the genome are sequenced. This allow researchers to focus time, expenses and data analysis on clinically relevant genes or regions of interest. Such targeted sequencing enables call of variety of DNA variants and gene fusions from a wide range of sample types for numerous applications.

The massive amount of data produced by NGS also presents a significant challenge for data storage, analyses and management. Therefore, advanced bioinformatics tools are essential to help reveal meaningful insights for results that make an impact.

Keywords: (Next-generation sequencing; NGS; targeted sequencing, bioinformatics)