UK Biobank Data Release, New DNAnexus Cohort Browser
By Bio-IT World Staff
March 13, 2019 | On Monday, the UK Biobank released exome sequence data of 50,000 UK Biobank participants linked to detailed health records, imaging and other health-related data. In conjunction, DNAnexus announced a browser for its Apollo Platform, allowing for easy navigation and exploration of combined genotypic and phenotypic data.
The UK Biobank dataset was generated at the Regeneron Genetics Center through a collaboration between UK Biobank, Regeneron, and GSK. Consistent with the founding principles of UK Biobank, the first tranche of data was briefly available only to Regeneron and GSK. The two groups have reported the findings from their exclusive research period in a preprint of a manuscript available on biorxiv.org. Key findings included novel loss of function associations with large effects on disease risk, including between PIEZO1 and varicose veins, MEPE and bone mineral density and osteoporosis, COL6A1 and ocular traits, and IQGAP2 and GMPR associated with blood cell traits.
Additional tranches of data will similarly be released over the next two years. All sequencing and analyses activities are undertaken on a de-identified basis, with the utmost consideration and respect for participant privacy and confidentiality principles.
“We believe this is the largest open access resource of exome sequence data linked to robust health records in the world—and this is just the beginning,” said Aris Baras, MD, Senior Vice President and Head of the Regeneron Genetics Center in a press release. “There is so much actionable information in this resource that can be utilized by scientific minds around the globe. We are hard at work mining the data for novel findings that will accelerate science, innovative new medicines and improved patient care, and are excited to have others join us in this important quest.”
New Apollo Browser
The RGC uses DNAnexus to run bioinformatics pipelines and deliver the results back to collaborators. As part of this data delivery, the RGC successfully deployed the DNAnexus 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 in a separate press release.
Aligned with the UK Biobank announcement, DNAnexus 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. Researchers with approved access can upload their UK Biobank data to DNAnexus Apollo and use the cohort browser to accelerate research and discovery.
DNAnexus Apollo is a 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.