Cancer WGS on the PromethION

Abstract

At Genomics England, in partnership with NHSE, Greg Elgar and his team assessing the potential of long read sequencing reads for cancer whole genome sequencing (WGS) using the PromethION instrument. In a phased programme, the aim is to build a robust and resilient end-to-end pipeline for medium to high throughput WGS that provides sufficient coverage for sensitive somatic calling of structural and small variants, as well as for accurate methylation profiling. Greg's team have recently completed Phase 1, sequencing around 100 tumour:normal pairs from 3 different cancer types, where the primary objectives were to establish a set of protocols that will permit the design and scaling of a clinical pipeline, in a similar vein to the existing short read WGS pipeline for the NHS Genomic Medicine Service

Bio

Greg is currently Director of Sequencing R&D at Genomics England with over 35 years’ experience in molecular biology, including 25 years in Genomics as a Principal Investigator where he established, co-ordinated, and managed multi-disciplinary teams and pipelines. He has published nearly 150 peer-reviewed publications and played lead roles in a number of international genome sequencing projects. Greg’s academic career has included positions at the Sanger Campus, QMUL, NIMR, and the Crick Institute, leading research groups and sequencing facilities. In January 2018 Greg joined Genomics England as Director of Sequencing, where he co-ordinates programmes across diverse omics platforms.