UK Biobank is a major national and international health resource, with the aim of improving the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses – including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia. UK Biobank recruited 500,000 people aged between 40-69 years in 2006-2010 from across the country to take part in this project. They have undergone measures, provided blood, urine and saliva samples for future analysis, and detailed information about themselves and agreed to have their health followed. Over many years this will build into a powerful resource to help scientists discover why some people develop particular diseases and others do not.
Biogen, as part of the Life Sciences Genetics Consortia including Regeneron, Pfizer, AstraZeneca, Bristol-Myers Squibb and several other leading life sciences companies, will probe the protein-coding genomic regions of all 500,000 participants by the end of 2020.
To analyze the UK Biobank’s massive amount of medical data ranging from exome sequencing, to plasma biomarkers, and biographic information, Biogen knew it needed to have an informatics solution that could be matched to handling data at this scale.
Biogen partnered with Databricks, an AWS life science competency partner, to design a software solution stack that harnessed AWS services such as Elastic Compute Cloud (Amazon EC2) and Amazon Simple Storage Service (Amazon S3) to analyze the data efficiently and securely, allowing the team to uncover important insights into the biological basis of neurodegenerative diseases.
Watch the AWS on-demand webinar and hear from David Sexton, the Senior Director of Genome Technology and informatics at Biogen, and Frank Nothaft, Technical Director, Health and Life Sciences at Databricks about the challenges of the project and the solution that enabled Biogen team to significantly accelerate variant annotation of massive genomic datasets and ramp up the sequencing platform for research and clinical samples.