This talk will review successful efforts at Washington University to employ novel reagents and informatics to the problem of rare allele detection. I will discuss a published bakeoff of in silico variant callers. I will describe rare variant detection in our lab using a novel “unlockable” blocked PCR primer developed at IDT. Finally I will describe a new method, developed at Washington University to leverage UMI to push detection down to 1 in 10,000.
1. Will discuss bench versus bioinformatic approaches to sensitivity to rare alleles both in malignant tissue and in a so-called ”liquid biopsy".
2. Will discuss the method that proports maximum sensitivity (0.01)