Videos
Talk: Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases
Apr 23, 2018

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 about Whole Exome Sequencing here.
Last modified: October 29, 2020