Hywel Williams is a Senior Research Associate at the University College London Great Ormond Street Institute of Child Health. He manages GOSgene, a multidisciplinary group of geneticists, bioinformaticians, programmers, clinicians and molecular biologists, whose overarching aim is to identify genes that cause rare diseases in paediatric patients. Hywel is recognised as a digital pioneer for his work on analysing whole genome sequence data, with the aim of greatly improving the timescale taken to process data.
“The benefits of greater speed in patient data analysis can be life changing,” he explains, “By liaising with academic and commercial partners, I identified possible digital solutions, some of which involved UCL servers and open source software, some used the collaborative academic computational resource eMedLab, and others relied on commercially available solutions.”
“We were able to rule out a number of options that would not deliver according to the time and reliability constraints set. One digital solution that fitted my requirements, was the GENALICE software/hardware, and I sought to use its bespoke digital solution for the analysis of whole genome sequence data. The integration of this software/hardware within our current server environment has allowed me to transform the timescale taken to process data by reducing the analysis times for projects from days to hours.
“Working with GENALICE on a trial basis I was able to evaluate the quality of their data and once I had demonstrated the accuracy and precision of the data we began an eight-month trial.”