Technology Development

Technology and Bioinformatics

The Institute has assembled a high-performance team of bioinformaticians, software engineers, web developers and statistical scientists charged with developing and optimizing the technology needed to manage the vast amounts of data processing, storage and transmission needed to analyze thousands of genomes per year.

Each step in our diagnostic workflow is engineered to reduce the time and cost of delivering genomic testing results and improve care of acutely ill infants and children.

Working closely with leading biotechnology and data science companies, the team has developed an end-to-end pipeline that integrates state-of-the-art software and technology platforms. Each element in the process has been optimized and validated to meet the Institute’s stringent security needs and clinical regulatory requirements.

Through process engineering, our scientists have compressed the time needed to decode rare genetic disorders in newborns through genomic sequencing to less than a week compared to the six or more weeks commonly required by commercial laboratories. Precise genomic information is rapidly relayed from the lab to the attending intensive care physicians to inform and guide treatment of the children in their care.

Pictured above from top left: Josh Braun, Raymond Hovey, Narayanan Veeraraghavan (director), Marie Janes, Sergey Batalov. Bottom Left to Right: Carlos Diaz, Michelle Clark, Patrick Mulrooney, Danny Oh.

Bio IT Award Winner 2017

The Institute’s Information Technology and Bioinformatics team, under the direction of Narayanan Veeraraghavan, received the 2017 Bio-IT World Best Practices Award for engineering the rapid Whole Genome Sequencing pipeline.

Click here to read more about this distinction.