GENALICE’s Population Calling analysis module improves diagnosis, treatment of complex DNA diseases

Today, GENALICE is setting a new standard for ultra-fast and highly reliable detection of all DNA changes in large patient cohorts. In a one-hour online event, the complete genomes of 800 Alzheimer Disease (AD) patients were processed, and by ingeniously using the aggregate information from the complete group, detection of DNA changes, or variants, in individual patients was enhanced. With this so-called Population Calling approach more known variants can be detected, the number of detection errors can be reduced, and more new variants can be discovered. This new solution has the potential to significantly accelerate precision medicine research and improve diagnosis and treatment of patients with complex DNA diseases.

Today’s event, sponsored by Intel and Amazon Web Services (AWS), was organized to mark the launch of Population Calling, a new analysis module of the GENALICE MAP Next-Generation Sequencing (NGS) Data Analysis Suite. In a LIVE webinar, the company, in a scientific partnership with Mount Sinai Hospital, showcased their exceptional ability to improve individual patient results and discover disease specific DNA changes at significantly reduced cost and time.

Dr. Eric Schadt, director of the Icahn Institute for Genomics and Multi-scale Biology and chair of the department of Genetics and Genomics Sciences at Mount Sinai Hospital (NYC), is impressed with GENALICE’s achievements and comments:

NGS developments have brought us to a point that we can use the aggregated information of fast growing patient cohorts. Using alternative solutions has significant drawbacks. The smart solution GENALICE introduces today helps us tremendously to speed up genomics developments.

GENALICE is a highly innovative biomedical big data solutions company with global headquarters in the Netherlands. In December 2013 it successfully introduced its breakthrough NGS data processing and analysis solution, GENALICE MAP. With the original components of MAP, the company brought spectacular speed increases to the first two steps in NGS data processing on an individual patient level: mapping and variant calling. This was achieved not by choosing the route of brute force and adding more computer power, but through developing smart algorithm-based software solutions. In addition, GENALICE has mastered the art of reducing the large footprint of NGS data by introducing a new file format without compromising the quality of the results.

“Population Calling has the potential to give a strong boost to new biomarker discoveries in research and more accurate diagnosis in clinical application,” said Hans Karten, CEO/CTO of GENALICE. “However, even smaller patient groups between 500 and 1,000 deliver a true big data challenge. Seeing the benefits, we are committed to bring this important technology to a much wider audience, delivering an ultra high speed, high quality, low footprint and easy to use solution.”

He continued:

The speed increase with our software is more than two orders of magnitude. On a single Intel Xeon E5 processor it takes us less than 6 minutes to analyze one sample, while conventional tools demand 34 hours of the same hardware configuration. Our population caller produces more reliable results than single-sample analysis thru improved sensitivity and precision.