What is e-GenoType?
Processing large volumes of short reads from second generation sequencing instruments is computationally costly and time consuming. Usually the first step of this process requires mapping to align the sequence reads back to the reference. This is often the most costly step as mapping algorithms are computationally intensive and require a fair amount of CPU, memory and storage. It is not uncommon for days to pass before basic information such as mappable yield is available, and it takes even longer to generate SNP calls and genotype information. To serve the need for rapid analysis of second generation sequence data we have developed e-GenoType, a set of tools aimed at rapidly screening sequence data for known alleles that can generate genotype data in minutes or hours instead of days or weeks.
As it is a known allele screening method, e-GenoType cannot do de novo variation discovery, but as community efforts such as the thousand genomes project progress, the known allele databases with dramatically increase in size. In short, this will never replace a full mapping and variation calling analysis of a whole genome sample, but it is an increasingly useful Supplement as the universe of known human variation rapidly expands.
How to get started
Check the README that comes with the distribution.
Great! feel free to email us at: