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Whole Exome Sequencing with Next-Generation Sequencing (NGS)

Exome sequencing is a targeted next-generation sequencing (NGS) approach that interrogates only the protein-coding regions of the genome. While whole genome sequencing (WGS) provides complete sequencing of a genome, data analysis constraints and the high cost of WGS have led to the development of more cost-effective targeted NGS and whole exome sequencing (WES) solutions. 

 

Sequencing of exomes enables clinical researchers to identify functional variations that are associated with a wide range of disorders and diseases, by using enrichment strategies that target all coding regions of a genome, regulatory regions and 3’ untranslated regions, and other functionally annotated regions of interest, such as miRNA genes and various noncoding RNAs.

Thermo Fisher Scientific offers flexible exome sequencing solutions with multiple target enrichment approaches, including amplicon-based and hybrid capture workflows, to support a range of study designs, throughput needs, and clinical research applications.

Exome sequencing enrichment solutions

Choose the exome enrichment approach that best fits your research and sequencing workflow. We offer solutions for both amplicon-based and hybrid capture target enrichment.

Amplicon-based exome sequencing

Ion AmpliSeq technology uses multiplex PCR to selectively amplify exonic regions, providing a simple and highly targeted approach to exome sequencing with a streamlined workflow from library preparation through sequencing and analysis on the Ion GeneStudio S5 systems. 

Hybrid capture exome sequencing

Applied Biosystems hybrid capture technology uses double-stranded DNA probes to capture exonic regions, enabling broad, uniform coverage across the human exome, including GC-rich and complex regions, for efficient sequencing and confident variant detection. 

For Research Use Only. Not for use in diagnostic procedures.

PMR-008969