Whole Genome Sequencing Vanguard Informatics

UK Biobank is issuing this tender to invite Bids to supply large-scale, specialist Whole Genome Sequencing (WGS) Vanguard Informatics, for provision of services for core informatics, sample QA/QC and batch reporting, and cohort QA/QC and processing of data to make them research ready, for up to 44,800 genomes.

UK Biobank is seeking to put in place specialist informatics for the Whole Genome Sequencing vanguard phase, by which the sequencing data generated can be appropriately: - received, reviewed for data and meta-data quality and integrity, and accepted; - processed to derive sample-level outputs that will maximise utility to the research community; and - integrated and quality-controlled at the cohort-level to prepare a research-ready dataset (for example, appropriate for genome-wide association analysis or rare-variant burden testing using common tools).

The successful supplier will receive sequencing output, process these data based on the requirements outlined within this technical specification, and provide deliverable data back to UK Biobank.

UK Biobank has tendered separately for Research Data Storage Services to provide long-term storage, access and distribution of these data to the research community and this is outside the scope of services requested here.

The successful supplier must have experience of, and capacity to, supporting projects that involved Informatics services at scale.

During the course of service delivery, industry developments and advice from UK Biobank's WGS Expert Working Group may suggest changes to the file formats used and/or aspects of the pipeline configuration (both minor and major versions changes and/or alternative or additional pipelines).

The successful supplier will need to be able to accommodate any such changes (and which would be agreed and implemented through the project's change control process).