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.

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Last modified: 04.25.2018