Validation of whole genome and whole exome mutation.

Each run of a second generation sequencing system involves significant investment of time and money. It is a frustrating experience for sequencing users to wait for weeks and spend a considerable amount of money, just to realize that their libraries are not of good quality. Moreover, second generation sequencing systems generate large numbers of variant calls from whole genome or whole exome runs. Validation with a fast, high throughput system that uses an orthogonal technology (independent chemistry) is key to the scientific accuracy of a project.

Speed and a unique, simple chemistry makes the Ion Torrent Personal Genome Machine™ (PGM™) sequencer the only available platform in the market that is capable of performing both rapid quality control of sequencing libraries, and fast, accurate and high throughput variant validation