Exome Sequencing

Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. Sequencing only the coding regions of the genome enables researchers to focus their resources on the genes most likely to affect phenotype, and offers an accessible combination of turnaround time and price.

Exome sequencing detects variants in coding exons, with the capability to expand targeted content to include untranslated regions (UTRs) and microRNA for a more comprehensive view of gene regulation. DNA libraries can be prepared in as little as 1 day and require only 4–5 Gb of sequencing per exome.

Sequencing Thousands of Samples to Gain Insights into Novel Variants

Regeneron Genetics Center researchers perform exome sequencing analysis on patient-consented data sets to identify relevant genetic associations.

National Exome Sequencing Program

A landmark NGS study identifying rare disease variants in infants led to a national clinical exome sequencing program in Singapore.

NGS Proves Invaluable for Biomarker Discovery

Researchers use exome sequencing, RNA sequencing, and other NGS methods in their search for cancer-associated gene expression profiles.

The DRAGEN Bio-IT Platform provides accurate, ultra-rapid analysis of exome sequencing data and other NGS data across a broad range of applications.

Whole-exome and transcriptome sequencing prove beneficial in uncovering mutations and pathways associated with rare disease.