Friday, February 11, 2011

Variant Analysis and Sequencing Labs

Yesterday and two weeks ago, Geospiza released two important news items.  The first announced PerkinElmer's section of the GeneSifter® Lab and Analysis systems to support their new DNA sequencing service. The second was an announcement of our new SBIR award to improve variant detection software.

Why are these important?

The PerkinElmer news is another validation of the fact that software systems need to integrate laboratory operations and scientific data analysis in ways that go deeper than sending computing jobs to a server (links below).  To remain competitive, service labs can no longer satisfy customer needs by simply delivering data. They must deliver a unit of information that is consistent with the experiment, or assay, that is being conducted by their clients.  PerkinElmer recognizes this fact along with our many other customers who participate in our partner program and work with our LIMS (GSLE) and Analysis (GSAE) systems to support their clients doing Sanger sequencing, Next Gen sequencing, or microarray analysis.

The SBIR news communicates our path toward making the units of information that go with whole genome sequencing, targeted sequencing, exome sequencing, allele analysis, and transcriptome sequencing as rich as possible. Through the project, we will add new applications to our analysis capabilities that solve the three fundamental problems related to data quality analysis, information integration, and the user experience.

  • Through advanced data quality analysis we can address the question, if we see a variant, can we understand wether the difference is random noise, a systematic error, or biological signal? 
  • Information integration will help scientists and clinical researchers quickly add biological context to their data. 
  • New visualization and annotation interfaces will help individuals explore the high-dimensional datasets resulting from the 100's and 1000's of samples needed to develop scientific and clinical insights. 

Further Reading

Geospiza wins $1.2 M grant to add new DNA variant application to GeneSifter software.

No comments: