Enhanced Browsing Allows for Rapid Navigation of Clinicogenomic Data Bank

12 Mar 2019
Matthew Horan
Consultant

DNAnexus, Inc. has announced the addition of an innovative browser for clinico-genomic cohorts to its DNAnexus Apollo™ Platform, allowing for easy at-scale navigation and exploration on combined genotypic and phenotypic data. The DNAnexus Platform has been used by scientists at the Regeneron Genetics Center (RGC) as part of its effort to sequence, analyze, and deliver the exome data of the UK Biobank (UKB) study. Starting today, the UKB is releasing a data set of 50,000 exomes and combined phenotypes to the greater research community. Researchers with approved access can upload their UKB data to DNAnexus Apollo and use the cohort browser to accelerate research and discovery.

DNAnexus Apollo is an enhanced platform for data science exploration, analysis, and discovery, designed to empower R&D teams globally. The addition of the cohort browser allows diverse teams the ability to rapidly ask questions of data through a powerful yet intuitive user interface. Biologists and bioinformaticians alike can quickly and easily navigate and filter any number of phenotypic fields and genetic variants for population-scale data exploration and insight discovery.

The RGC, in collaboration with several pharmaceutical companies, has undertaken the exome sequencing and analysis of the UK Biobank study, a biospecimen collection from more than 500,000 individuals. The center uses DNAnexus to run bioinformatics pipelines and deliver the results back to collaborators. As part of this delivery, the RGC successfully deployed the cohort browser on a collection of thousands of phenotypic fields extracted from the UK Biobank and millions of genetic variants computed through its scientific pipelines.

“There is a tremendous amount of knowledge waiting to be gleaned from the UK Biobank collection, and DNAnexus has been a key partner in helping us navigate the complexities of generating and delivering this data to the UK Biobank and our pharma partners in the exome sequencing project,” said Jeffrey Reid, Vice President and Head of Genome Informatics & Data Engineering at Regeneron Pharmaceuticals.

“Scientists can bring their data to DNAnexus Apollo and use our cohort browser for easy and rapid exploration, querying potentially thousands of phenotype fields and millions of genetic variants in a matter of seconds,” said Richard Daly, Chief Executive Officer of DNAnexus. “Once all UK Biobank participants become sequenced and the data publicly available, the underlying data matrix will consist of trillions of data points, and our technology has been designed to handle this extreme scale. DNAnexus has long been at the forefront of scalable informatics and we are pleased to offer this novel solution to the research community.”

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