Talk: Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases
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.
Whole Exome Sequencing
Our high-performance Whole Exome Sequencing has excellent coverage for several difficult-to-sequence genes and 1501 clinically relevant intronic variants included.
- Highly uniform sequencing depth across all protein-coding genes
- Mean sequencing coverage of 174x
- 99.4% of base pairs covered at 20x
Read more here.