Getting to know us: Nuno from Ensembl Variation

We are reviving our Getting to know us blog series! First up is Nuno Agostinho, who joined the Variation team at the end of 2021. Here, we’ll get to know Nuno, what his role is, and how he became part of the Ensembl project.

When did you join and what is your job in Ensembl?

I joined Ensembl Variation as a scientific programmer in December 2021. I initially worked remotely from Portugal. My first week at the European Bioinformatics Institute (EBI) – as well as my first week in Cambridge – was not until the end of March 2022. Finally, I could meet, chat and discuss with all my fellow colleagues face-to-face and leave Zoom (almost) behind!

Wondering what variation is? We humans are almost identical to each other: 99.9% of our genetic makeup is the same. Although environmental causes also impact our diversity, the variation in the remaining 0.1% is majorly responsible for our individual differences. Some of these differences are prevalent to populations spanning entire continents, others are rather family-specific.
Ensembl Variation provides freely available resources in order to help better understand and improve our knowledge on genetic variation across humans and multiple other organisms. You can read more about Ensembl Variation resources in this article.

What do you enjoy about your job?

I enjoy doing what I was born to do: creating and improving bioinformatics software and pipelines to help others answer their biological questions. At Ensembl, I feel like I am part of an experienced team that is always willing to help each other at every step to make our goals a reality.

However, the most exciting part of working at Ensembl is actually meeting people of different backgrounds and cultures that share the same passion for delivering high-quality, freely available bioinformatics data and services to support scientific research. No matter how seemingly little our individual contributions seem, it’s the joint effort of everyone that helps science to progress.

How did you end up here?

I always knew that I would like to have an opportunity to visit the EBI. Besides its world-renowned services, it is located on a campus dedicated to genomics research and services.

One day, I noticed a job vacancy in the Ensembl Variation team and I asked a close friend whether I should apply. I had doubts that I was competitive enough for the position given the job’s focus on the skills and experience of a computer scientist and less so on bioinformatics. My lovely friend insisted that I should apply to get to know more about the place and the people at Ensembl: “there is nothing to lose”. Indeed there was not. A couple of months later, I was part of the team! 🙂

How did you get into bioinformatics?

It all started during my Bachelor’s degree in molecular and cell biology around 10 years ago! I definitely wanted to study biology because it was my life-long dream ever since I was a little kid. I was mesmerised by the stories of evolution and the origin of life told by my favourite biology and geology teacher – my grandfather. I never fancied geology that much though…
During the first year of my Bachelor’s, I had a subject called Programming for Experimental Sciences where I was thrown into the amazing world of programming in Octave. I was so delighted that I decided to take optional classes on (more popular) programming languages like C and Python. Soon, I decided to do a bioinformatics internship in a research lab, then a Master’s degree in informatics, and finally a PhD in bioinformatics before joining Ensembl.

What did you do before joining Ensembl?

Before Ensembl, I was working on my PhD in bioinformatics at Nuno Morais Lab at the Instituto de Medicina Molecular in Lisbon in Portugal. My work revolved around creating psichomics, a web application to quantify and visualise alternative splicing in humans and other organisms. The app can use user-provided data, as well as automatically downloaded data from large-scale human projects such as The Cancer Genome Atlas (TCGA) and the Genotype-Tissue (GTEx) project.

I thoroughly enjoyed designing and building psichomics from the ground up, but it is the positive feedback and citations for my work I still receive to this very day that leave me pleased with my decision to have embarked on that adventure.

What do you do when you are not working?

Outside of work, I am still exploring the wonders of Cambridge! Besides feeling like a tourist who wants to experience all that this city has to give, I am trying to go back to my prior routines of working out most days, playing board games with local friends (and video games with my remote friends in Portugal), going for some drinks in the surrounding pubs, exploring trails and the landscapes around and watch the latest (and must-see classic) movies. Hopefully, I can manage to do all these things and still have some time to sleep before the day is over. 🙂