Swiss Foundation for People with Rare Diseases and Genalice collaborate on the study of genetic rare diseases

Foundation for People with Rare Diseases (Schlieren-Zurich, Switzerland) and GENALICE collaborate on the study of genetic rare diseases.

The Foundation for People with Rare Diseases (FPRD) and genomic big data solutions company Genalice announce their collaboration and the closing of a new 3 year Genalice Map license agreement. This allows FPRD ultra-fast and accurate analysis of complex whole genomes from rare disease patients.

Implementation and further development of Genalice solutions enable FPRD to support patients with rare diseases by investigating genetic variants and their clinical consequences.

Caroline Henggeler, specialist in medical genetics at FPRD explains: “Fast and accurate analysis of genome-scale sequencing data constitutes a computational bottleneck in the current genomics era.” “In our recent PNAS benchmarking study, Genalice Map achieved superior speed and lowest disk footprint with BWA/GATK-like sensitivity”, completes Dr. Janine Meienberg, human biologist at FPRD. The full study has recently been accepted for publication.

Dr. Anna Kopps, molecular biologist at FRPD and co-first author of the pipeline benchmarking study, states: “We really like the use of the Population Calling Module to investigate the variants of individuals in the context of the population. Because of its high processing speed we can easily optimize the best accuracy for rare disease testing for which we need to get false negative results reduced to zero.”

Dr. Michelle Meijer, Commercial Director at Genalice comments: “Indeed the ultra-fast iteration options of the Genalice Map Population Calling module are highly critical for genetic testing in clinical rare disease applications. We can process a human whole genome 30x sample, delivering a complete VCF file in less than 30 minutes, where existing tools easily require up to 80 hours. Our balanced solution providing maximum sensitivity combined with fast delivery is an easy and natural fit for any scale genetic rare disease testing.”

About the Foundation for People with Rare Diseases

The Swiss Foundation for People with Rare Diseases conducts nationally and internationally recognized research in the field of human genetics and creates the basis for the diagnosis and treatment of rare diseases, as well as for the counselling of patients and their relatives, through genetic investigations. The Foundation performs teaching at university level as well as promotes the expansion and deepening of the knowledge of rare diseases.

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