Unravelling the mysteries of the worm through bioinformatics

Studying wriggly nematode worms may not necessarily be an obvious choice for a research project – unless you know genomics history. The nematode Caenorhabditis elegans was the first animal to have its genome completely sequenced in a collaboration led by the Wellcome Sanger Institute and the Genome Institute at Washington University. Sequencing the C. elegans genome laid the groundwork for technology to be applied to other organisms,with one of the most notable being the Human Genome Project.

So, studying worms is no lowly thing – just ask bioinformatician and current Sanger Prize holder Beatriz Rodrigues Estevam. Her time at the Wellcome Sanger Institute – as part of a three month-long research internship mentored by a faculty member - is being spent in Professor Mark Blaxter’s research group, within which there are quite a few worm genomics experts.

We chatted with Beatriz to hear more about her career so far, what an average day studying worms looks like, and her biggest culture shock moving from Brazil to the UK. We better get a wriggle on…

I am working in the Tree of Life programme at the Sanger Institute, gaining hands-on experience in building and optimising Nextflow pipelines. These pipelines help us analyse large-scale nematode genomic and transcriptomic datasets. Genomic data is all the organism’s genetic information, while transcriptomic data is all the RNA molecules, giving insight into which genes are active. This work contributes towards the 959 Nematode Genomes Project – which aims to increase the number of nematode genomes to advance understanding around parasitism, genome adaptation and change, and may ultimately reveal how the nematode has become one of the most successful species on Earth.

Specifically, my project focuses on developing approaches to detect and characterise trans-splicing events, a fascinating RNA processing mechanism that is seemingly common in nematodes. Trans-splicing is where two pieces of RNA from different genes are joined together. The RNA molecule is then a mature, functional RNA strand, which can then be used to create proteins. In nematodes operons - which is a group of genes that is part of the same transcript - trans splicing could be applied to enable the worm to add a specific beginning to a transcript. This could then end up enhancing expression of some genes, but we have a lot more to learn about this topic still.

Day-to-day, I spend time exploring transcriptomic data, understanding the biological context of trans-splicing, and designing computational strategies to capture these events efficiently. Much of my work involves writing and testing code, troubleshooting analyses, and continuously improving the pipeline so that it can handle data from hundreds of nematode species.

I found my way into bioinformatics almost by accident. During the COVID-19 pandemic, when labs were closed, I started working with SARS-CoV-2 sequences, tracking how codon – a set of three nucleotides in DNA molecules that translates to amino acids − usage changed over time. It felt a bit like hacking into biology, uncovering patterns hidden in the virus’ genetic code using nothing but my laptop. I was hooked. From there, I moved on from viruses to studying fungal and bacterial proteins, and eventually onto plants with enormous, complex genomes.

It was during a lab meeting with my supervisor Professor Diego Mauricio Riaño-Pachón at the University of São Paulo that I first heard about an ambitious project called the Darwin Tree of Life. This project is an effort to sequence all complex life living in and around the British Isles and Ireland. I was immediately intrigued by the scale and vision of the project, and it planted a seed that eventually led me to apply for the Sanger Prize in Professor Mark Blaxter’s group. The Sanger Prize is a fully funded three-month internship available to undergraduate students from low-and-middle income countries to experience a research project here at the Institute.

That moment of connecting my computational work with a larger, collaborative effort, made me realise how much I wanted to be part of research that spans organisms, scales, and disciplines.

Now, I find myself studying nematodes and their fascinating trans-splicing mechanisms. Each topic has brought new challenges – like learning to handle data that sometimes feels larger than life – but also new excitement. What started off as a pandemic workaround ended up being my scientific home.

The most incredible part of my Sanger Prize experience so far is the collaborative atmosphere and daily discussions. I regularly exchange ideas and results with colleagues in the Blaxter group, who have been incredibly generous with their mentoring and feedback. Having a fellow Brazilian postdoc and Senior Bioinformatician, Dr Marcela Uliano-Silva, as my supervisor has been especially motivating; it is wonderful to have someone so experienced from home to share scientific ideas and experiences with.

I really love exploring new places and spending time with my friends. Here in the UK, I’ve been really enjoying cycling a lot. And I absolutely love cooking –which doesn’t necessarily mean I’m good at it, but I do enjoy it!

I have also experienced my first Halloween here in the UK. This is not a festival that we celebrate in Brazil, so it was really fun to experience it. I could definitely use some more pumpkin carving practice!

I think the biggest culture shock for me was definitely the weather. I came expecting rain, but it was the wind that really caught me by surprise, and I quickly learned that using an umbrella isn’t always the best idea! The way people talk about temperature still makes me laugh. I’d hear people say, “It’s quite warm today”- but for any Brazilian this would be considered winter! It took me some adjustment and a very good rain jacket –but now I find it all a charming part of living here.

I was not initially thinking about doing a PhD. I applied to the Sanger Prize to experience the Sanger Institute because it is an outstanding, cutting-edge research centre with a strong focus on bioinformatics. Being here has allowed me to significantly enhance my expertise in computational biology. It has been a very motivating opportunity to develop my skill set further and to connect with inspiring scientists who are driving some of the most exciting advances in modern science.

I have enjoyed my time here so much that I am considering applying to PhD programmes. I would like to find myself back here at the Sanger Institute one day as a doctoral student studying genomes.

My main piece of advice would be − just try. The whole application process is incredibly enriching on its own. I truly believe the Sanger Prize values potential, curiosity, and genuine interest more than a perfect CV. Besides that, I think the best thing a student can do is show how their own interests connect with the values and the kind of projects carried out at the Sanger. That alignment, between what excites you and what the Institute stands for, can make your application really meaningful.

Are you a researcher interested in applying to the Sanger Prize? The next round of applications is open as of 17 November; apply by 9 January 2026.