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Accelerated identification of genetic variants

The new Variant Reporter software from Applied Biosystems accelerates sequence data analysis in biomedical research by automating the detection of genetic variants and streamlining the analysis process.

Applied Biosystems estimates that the software can halve the time taken currently to evaluate genetic variation data generated by medical sequencing, which is central to understanding the genetic causes of disease and an individual’s response to drugs.

The Variant Reporter software uses proprietary algorithms to discover and identify genetic variants, determine the genotypes and calculate project quality statistics. These features are expected to enable researchers to study complex diseases across multiple genes more efficiently, and process the large data sets generated by automated DNA sequencing technologies.

According to Dr Nicholas Marini, research scientist at the University of California at Berkeley: “The Variant Reporter software addresses a major log jam that currently exists in this process by providing a better way to evaluate variation data and identify targets of interest rapidly.

This could save us literally hundreds of hours in time spent evaluating these large data sets.”

www.appliedbiosystems.com

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