Reflecting on my bioinformatics internship

The Bioinformatics Research Services team support high quality research that uses data within the National Genomics Research Library.

They work closely with academic researchers and industry partners to accelerate scientific discovery to benefit patients.

Ella Davyson, PhD Bioinformatics Intern, reflects on her time in the Bioinformatics Research Services team, highlighting her work on identifying gene variants in rare genetic conditions.

My role at Genomics England

I was a Bioinformatics Intern in the Bioinformatics Research Services team at Genomics England. Our team works with external clients to lead research analyses and discoveries using the data in the National Genomic Research Library.

One of the main aims of the internship was to showcase the work of this team, which includes using case studies to prioritise gene variants that may be important in rare genetic conditions.

I also had the opportunity to work directly with a client to identify potentially disease-causing, also known as pathogenic, small and structural gene variants in an ultra-rare condition.

Both projects aimed to learn more about potential disease-causing variants in rare conditions, which in turn may help Genomics England in delivering diagnoses to participants.

Day-to-day activities involved performing literature searches, running in-house analysis pipelines and workflows (usually with a fair bit of troubleshooting), writing up findings in a report, and presenting our findings.

What motivated me to join Genomics England?

I am very interested in questions about mental health conditions, which I first studied during my undergraduate degree in Neuroscience at the University of Bristol.

Why do some people experience challenges with their mental health and others don’t? Why do treatments for psychiatric conditions work for some people and not others? What happens biologically when someone becomes severely depressed? These are just a few of the questions that fascinated me.

Luckily, I found a PhD programme that allows me to investigate some of these questions at the University of Edinburgh. My PhD specifically focussed on depression, and it’s here that I first began to analyse genetic and multiomic data to try and understand some of these questions.

I applied to the internship opportunity at Genomics England for various reasons. Mainly, I wanted to learn.

The internship offered the opportunity to work with whole genome sequencing data from the 100,000 Genomes Project, a type of data I hadn't worked with previously, which enables complete analysis of all genomic information. The focus on rare conditions, an area which I had little experience given my academic research into depression which is a fairly common disease, was also a big learning experience for me.

I was inspired to be involved with the NHS Genomic Medicine Service which was formed after the success of the 100,000 Genomes Project. Most importantly though, I strongly believe in the mission of Genomics England, to make genomic research and healthcare accessible for everyone.

My internship experience

I would define my internship at Genomics England as illuminating, as I gained a wealth of knowledge and new skills that significantly increased my understanding of genetics. Specifically, working with whole genome sequencing data presented a real shift in how in depth I thought about genetic analyses.

I also developed new ways of working in terms of project management, documentation and code version control which has been transformative for me. Aside from the bioinformatics analysis itself, I found the culture and community at Genomics England welcoming and productive.

There was an active encouragement to ask questions, a huge green flag to me (I am a big believer that there are no stupid questions). Also, my manager was incredibly supportive and would actively ensure that I was getting different experiences and opportunities, such as working on various projects and using different tools in the internship.

I also found aspects of the experience inspiring, especially at the Genomics England Research Summit, where the ongoing work and future directions of the organisation were showcased.

Overall, the internship provided me with a unique opportunity to work with world-leading bioinformaticians and learn from them. I have left with an increased knowledge of genetics and bioinformatics, as well as many transferable skills I know I will use in the future.

My advice for those thinking of applying

I would say to apply! It is an incredible opportunity to learn a lot and gain experience working outside of academia, all while knowing you are part of an organisation with a worthwhile and inspiring mission.

Also, don’t be put off applying if you’re not a complete expert in bioinformatics and genomics. If you have enthusiasm for learning new things and expanding your skillset, a small gap in criteria is really another extra reason to apply!

Ultimately, the internship is another training opportunity for your career development, and a valuable experience for PhD students in academia. You might also find that you offer a fresh perspective due to your unique background and experience.

What’s coming up next for me?

I now have a big 6 months ahead of me as I work towards completing my PhD, which is scary, exciting, and ultimately very busy. I love learning new things and being challenged, and I think I would thrive working as a genomic research scientist.

In the big picture, I aspire to have a career using big data genomic research with direct links to public healthcare, to make a meaningful impact on the treatment of diseases. I’m currently not sure about my next steps, but I’m certain that the skills and experience I gained through this internship will help me on the journey!