Nanoelectronics and digital technologies innovator Imec, Leuven, Belgium, has recently debuted ElPrep 4.0, the latest version of the company’s software tool to speed human DNA sequencing analysis.
According to Imec, ElPrep 4.0 accelerates whole-genome and exome processing pipelines by an order of magnitude, saving a typical lab hundreds of hours of computer processing time and facilitating faster completion of more DNA tests. ElPrep 4.0 is designed as a drop-in replacement for preparation steps defined by the genome analysis toolkit best practices pipelines for variant calling, while delivering identical results.
DNA sequencing involves splitting a human genome into thousands of fragments, which are then fed to sequencers to identify the genome’s individual bases. The process results in huge data files that are processed through a pipeline of tools to reconstruct the original DNA sequence, and to identify variants that may point to genetic disorders. Datasets for human whole-genome DNA are usually several hundred gigabytes of uncompressed data, resulting in typical processing times of tens of hours per genome.
ElPrep 4.0 executes all preparation steps for DNA sequencing up to variant calling. It can replace such DNA sequencing analysis software as GATK 4.0, Picard, and SAMtools, while producing identical results. The architecture of the ElPrep software enables it to execute analytical pipelines with only a single pass through the data, no matter how long the pipelines may be.
ElPrep is designed as a multithreaded application that runs entirely in memory, avoids repeated file input/output, and merges the computation of data for several DNA sequencing preparation steps. In a typical run, says Imec, the ElPrep software is up to ten times faster than other software tools using the same resources.
For further information, visit Imec.