Project Summary
During this program, Electronic BioSciences, Inc. (EBS) will develop and demonstrate a complete end-to-end
methodology, including sequence-targeted sample and library preparation and automated signal
processing/data analysis capabilities, for targeted human genome microsatellite characterization with a specific
focus on BAT-25, a well-known microsatellite biomarker associated with colon cancer. Microsatellites are
simple/short repeats (1-10 nucleotides in length) that occur in tandem 5-50 times and are among the most
variable types of DNA sequences in the genome. Mutations to these microsatellite regions include expansion or
contraction of the repeat number, single nucleotide polymorphisms (SNPs), and/or insertions or deletions
(indels), which have been documented with predisposition, onset, and/or prognosis for many types of cancer
and have been associated with numerous conditions (e.g., viral infections, cardiac disease, etc.). The targeted
characterization of microsatellite biomarkers represents a tractable approach (relative to whole genome
sequencing) towards clinical and point-of-care diagnostics and prognostics due to the associated instrumental
and consumable logistics and cost, data output/processing/management, and ease of data/results interpretation.
To date, however, there is no technology presently available that is ideally suited for microsatellite
characterization, which has significantly limited the understanding of microsatellites, their roles in disease states,
and the development of associated assays. During this Phase I SBIR program, EBS will pave the way to quick
and efficient microsatellite assessments and diagnostic/prognostic utilization through novel but simplistic
methodology and technological developments.