Introducing our new bioinformatics blog series

Augusto Rendon is the Chief Bioinformatician at Genomics England.

I am so excited to be launching this blog series. It is something we have been wanting to do for a while, and the time seems right. We now have a home for this series in our recently revamped website. We have also decided to focus on sharing with the bioinformatics community, a community that has been incredibly patient with us, that has shared knowledge, samples, and tools. So, here we go.

A bit more about us, bioinformatics at Genomics England. At Genomics England we have a large, diverse bioinformatics and data sciences team. We are over 70 people and growing, composed of genomic data scientists, bioinformaticians, scientific curators, sample managers and machine learning engineers. We develop workflows, analytical approaches, software, and processes; we support clinical and academic users; and manage and curate knowledge. We work as part of multidisciplinary teams together with engineers, architects, designers, product managers, clinicians and other scientists – definitely a huge learning experience for many of us.

Over the last 8 years, we have developed and accredited the pipelines that have analysed over 150,000 genomes in the 100,000 Genomes Project and now in the NHS Genomic Medicine Service. We have also developed the systems to analyse those genomes and enable their interpretation by clinical laboratories across the UK. We have built databases to accumulate and share the insights derived from those interpretations, thereby providing the tools to instantiate a learning system paradigm.

During this time, we have done a lot of work and thinking about bioinformatics at scale, from the perspectives of people, organisation, science and engineering. We have also made countless mistakes, seen the technology change dramatically, and hopefully learned important lessons.

We would like to share some of what we have found and some of the problems that we have struggled with and those we continue to struggle with. I hope we can begin a conversation with others facing similar challenges.

I feel immensely privileged to work with such wonderful people, and to have the opportunity to contribute to genomic medicine and enable researchers carry out genomic research.

In this blog series, you will be able to read how our people are tackling a diverse range of challenges in molecular oncology, rare disease genetics, newborn screening, long read sequencing and analysis, among other things.

I hope we can interest you to keep coming back. Do let us know what else you would like to hear about by leaving a comment below.