Genetic variant identification

Variant Reporter software is designed to accelerate the analysis of genetic variation data. The Variant Reporter Software reduces manual review time of these data by automating the detection of genetic variants and streamlining the data analysis process. Applied Biosystems expects that the software can reduce by up to half the time currently required to evaluate genetic variation data generated during medical sequencing projects.

Medical sequencing - also known as resequencing - is widely used to identify genetic variations in sample populations. This analysis technique is central to understanding genetic causes of disease and individual response to drugs. Automated DNA sequencing technologies have made it possible for researchers to perform detection and screening studies of genetic variants in large sample populations. These production-scale projects are generating substantial data sets that require robust bioinformatics tools that can facilitate the rapid analysis and management of this data.

Up to 70% of the medical sequencing process - from DNA extraction to data analysis - can be spent in data analysis. To streamline the analysis process Variant Reporter Software uses proprietary algorithms to identify genetic variations based on standardised or user-defined parameters. Results are then presented for validation in a visual format that allows researchers to simultaneously compare multiple quality control metrics. These features are expected to enable researchers to more efficiently study complex diseases across multiple genes and process data sets larger than current software applications are capable of managing.