For patients facing a rare disease, a genetic test isn’t the end of their story; it’s often just the beginning. A test result may point to a diagnosis, or it may reveal a genetic variant that we have ...
On January 29, 2018, the US Food and Drug Administration held a public workshop entitled, “Weighing the Evidence: Variant Classification and Interpretation in Precision Oncology.” Here, we discuss the ...
Variant annotation is the step in next-generation sequencing (NGS) analysis that transforms a raw list of sequence differences into a structured evidence profile, adding consequence predictions, ...
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