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Targeted Sequencing White Papers 3 of 5: Tools of the Trade
Posted by Karthik Kota on Nov 07, 2012This is the third of five posts released this week during ASHG2012 highlighting our targeted resequencing white papers available on our website
Tools of the Trade (PDF)
Today's white paper takes a deep dive into the laboratory and informatics infrastructure available at EdgeBio. The paper focuses on the robust analysis pipeline we have developed to deliver the best possible annotated variant calls to our customers. By using multiple variant callers and current best practices we are able to deliver highly sensitive and specific variant calls annotated with effect predictions and known disease mutations with several commonly used bioinformatics tools.
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