Detecting the Unexpected

Image repurposed from the original post on the Twist blog

This is a preview of the full post, located on Twist’s blog.

When looking for an answer, something to explain the underlying cause of a disease, researchers often turn to the genome. With more than 3.2 billion bases in the human genome, the first and most financially viable step is to narrow the search to portions most likely to be informative. To do this, researchers can extract specific portions of the genome for sequencing with target enrichment panels. Picking the right panel is key to collecting quality, informative data.

Researchers have two options at this stage: small and targeted panels or whole exome panels. Whereas panels of “clinically relevant” targets offer a narrow and cost-effective view of specific genes, Whole Exome Sequencing (WES) provides a dramatically increased perspective of the genetic landscape. With this broader view, researchers can parse through the data for known pathogenic variants, or piece together patterns that allude to novel gene-phenotype discoveries. Therein lies the power of WES: It provides a breadth of data that can be used for a myriad of applications.

The Twist Exome 2.0 panel is the newest addition to the Twist suite of sequencing tools, and is built to bring a combination of broad coverage and high efficiency to the translational research market.

Read the full article on the Twist Blog.