Heather Wetzel, MS, LCGC discusses the recent publication in Genome Medicine entitled “Achieving highsensitivity for clinical applications using augmented exome sequencing”. Heather discusses the results from this first ever comparison of an augmented exome sequencing approach (ACE Clinical Exome) to other standard exomes and whole genome sequencing to evaluate their ability to reach a “clinical” standard of coverage of key medically important genes. Learning Objectives:
- Recognize conventional exome sequencing capture platforms and current regions of the genome that are poorly covered and inaccurately identified with these technologies.
- Appreciate how the use of an augmented sequencing technology, such as Personalis’ Accuracy and Content Enhanced (ACE) strategy, improves coverage in the aforementioned regions and provides superior variant detection sensitivities.
- Understand how use of this enhanced technology translates into increased diagnostic yield in the clinical setting through the use of clinical examples.