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
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