Blueprint Genetics Senior Geneticist Jennifer Schleit, PhD, FACMG, gave a talk on Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases at ACMG 2018. Find out why high-quality exome is so important.
“Using a high-quality exome maximizes the likelihood of finding a diagnosis for your patient,” Jennifer Schleit says.
- Highly uniform sequencing depth across all protein-coding genes
- Mean sequencing coverage of 174x
- 99.4% of base pairs covered at 20x