Simplify Genomic Data Management

Raw genomic datasets are huge, and scientists and bioinformaticians have long sought ways to reduce the size of the datasets they work with by using a combination of data compression and reduction techniques. When genomic sequencing was in its infancy, raw sequencer output, around 2TB, was often stored for extended periods while bioinformaticians carried out the complex tasks in assembling and aligning of the sequencing data. With these steps complete, the data could be used in variant calling and interpretation, which are vital steps in understanding gene expression and disease.

Today this process is highly automated and has been greatly accelerated through a combination of parallel processing and the availability of reference genomes. Work that previously took months or years can now be turned around in little more than a day, and a number of compressed genomic file formats are available that reduce the size of an individually stored genome down to a few tens of gigabytes. This reduction has greatly improved the bioinformatician's ability to work with and transfer data to clinicians quickly and efficiently.