The title of Will's presentation is: "Open data in the validation of clinical genomics pipelines."
There is growing interest in the use of modern genomic technologies, next generation sequencing (NGS) in particular, in clinical diagnostics and therapeutics. Processing of NGS data typically requires complex pipelines of independent software components for read mapping, variant calling and variant annotation. For clinical use, the accuracy and reproducibility of these pipelines must be carefully validated, and revalidated upon any change to the pipeline. This talk looks at the emergence of standard reference materials for NGS bioinformatics, drawn mainly from public data resources, and how they are used.
EGN will be a great event to debate the global challenges around life sciences. If you are attending the event, why not meet with Will and discuss with him how Eagle overcomes the challenges. More information about the event and other talks is available here.