Example: Cross referencing clinical patient sequence
data back to the human genome is a necessary step for identifying
potential disease states amongst different individuals. SynaSearch was
able to re-map 1.68 million 120mer reads at 6x coverage from human
chromosome 22 patient’s data back to the human genome in
approximately 5 hours using command-line version. This approximates to
being 123-fold faster than BLAST as seen in Figure 1. The examples here
are a subset of the reads showing their positions on chromosome 22. We
simulated point mutations at various positions in the reads and correct
placement of these reads to the human genome (NCBI version 36) shows
the sensitivity of our alignments. The applicability of this tool could
also be translated to rapidly map Solexa-based sequencing reads or a
combination of both.
| Figure 1: Performance
comparison of mapping 1.68 million 454-type patient reads back to the
human genome (NCBI36).