A New Technique for the Detection of Large Indels and Structural Rearrangements
Abstract: Spiral Genetics has developed a novel method for sequence assembly and resolution of individual sequence variants. The standard approach, read alignment and consensus calling against a reference genome sequence, restricts effective variant detection to SNPs and small indels, fails to capturepopulation- and individual-specific sequence regions, and can introduce a significant amount of bias.
Our method, “Reference-Tagged Assembly”, aims to reliably detect variants such as large inserts, deletions, and rearrangements that are problematic for read alignment and accurately map them in the context of the existing reference sequence. First, we assemble the sequence de novo from read data, then map the assembly to genomic coordinates by applying sequence tags generated from the reference. Finally, we align the original reads to the assembled sequence and use the optimal alignments to correct errors and consolidate the assembly.
Jeremy Bruestle is the Chief Technology Officer of Sprial Genetics. He has an extensive background in distributed computing. Jeremy has a patent portfolio with five issued patents and he specializes in bridging the gap between academic research and applied technology.
At his previous venture, CoCo Communications, he developed a technology to enable large scale mesh networking communication. He also developed a parallel processing engine for cellular image analysis and an advanced retinal imaging system, developed in conjunction with researchers at Indiana University.