A novel method to detect structural variations in human genome using NGS sequencing reads from multiple sequencing technologies
BreakScan is a novel Kmer-based structural variation discovery method, which does not rely on pre-aligned bams or pre-constructed assemblies. Instead, BreakScan models insertion and deletion events in reference sequence with breakpoint junctions observed in NGS reads, then subsequently compiles evidence for those junctions from the sequencing reads generated by multiple platforms such as Illumina, 10X Genomics, and Pacific Bioscience. The predicted structural variants are generated from event models and ranked by their supporting evidence.
Reference:
Chunlin Xiao and Stephen Sherry, Integrated breakpoint analysis and structural variation detection using sequencing reads from multiple sequencing technologies for an Ashkenazi trio; (Abstract/Program #1382). Presented at the 67th Annual Meeting of The American Society of Human Genetics, October 19, 2017, Orlando, Florida.