Dr Alison Meynert on the IGC Bioinformatics Analysis Core Facility

She talks about her current project working with NHS Scotland Clinical Genetics Service to diagnose children with rare developmental disorders, how working as a software developer became boring for her, the importance of getting a feel for the culture of the lab and the institute before applying for a PhD, and how she investigated her in-laws' genotyping results at one of the commercial services.

Dr. Alison Meynert is the IGC Bioinformatics Analysis Core Manager. Her team provides guidance, training, computational tools, and collaborative expertise to all Institute of Genetics and Cancer researchers.

The facility has a track record of analysing novel high-throughput biological datasets, particularly sequencing data, and has co-authored numerous Institute of Genetics and Cancer publications and grant proposals.

Could you briefly summarise your work?

I manage the Bioinformatics Core Facility of the MRC Institute of Genetics and Cancer. The facility has three missions: collaborative bioinformatics and statistical analyses to enrich and support IGC research, training researchers to perform their own analyses, and developing best practices with local applications. This means that I spend a lot of time talking to people to find out what they need and who on my team can best meet those needs

Why is your research important? How is it relevant to people's lives?

Almost every group at IGC has used the core in one way or another: Disease mechanisms and models in rare diseases and cancer, regulatory genomics, personalized medicine, etc. The most immediately relevant project is the work we are doing with NHS Scotland Clinical Genetics Service through our Genome Data Analysis Facility. We run all the computational analysis for their trio whole exome service to diagnose children with rare developmental disorders - we take the raw sequencing reads and provide a small number of candidate causal variants per family, which are then considered by NHS clinical scientists for diagnosis. Over 700 families have been referred to the service, which can diagnose 35-40% of children.

What are the major challenges in your field?

Variant interpretation in rare diseases and cancer genomics. We understand only a small fraction of the functional impact of variants even in protein-coding genes, and that is less than 2% of the genome. Scientists studying the function of non-coding variants are in a vast sea of unknowns.

What inspired you to be a scientist?

As a child, I liked mathematics, and I was good at it. I went from there to computer science as an undergrad, and actually worked as a software developer in Vancouver for a while. But then I got bored and a new master's programme in bioinformatics caught my eye. I fell in love with the idea that I could apply the computing skills I already had to problems in biomedical science, and I have never looked back.

What do you like best about your job? What do you like the least?

The most beautiful thing is when someone I train has that lightbulb moment of enlightenment and the understanding is suddenly there. With that comes the satisfaction of getting a challenging piece of code to work properly. My least favourite part is the finances and the uncertainty of the contracts. I'm extraordinarily lucky that myself and some of my team members have open-ended contracts supported by MRC core or IGC hub funding, but others are fixed-term, and I've a target of 40% external funding for the team as a whole. I spend a lot of my time applying for funding myself or contributing to grant proposals that require bioinformatics support.

If you could have tea with another scientist (alive or dead), who would it be? What would you talk about?

Claire Griffiths from UKHSA. She is a statistician and leads the team that put together the fantastic UK Covid data dashboard, which should be a textbook example of good project management in data science. I'd love to talk to her about her experience with the dashboard and what she plans to do next.

What is the most unusual thing you have done as a scientist?

Looking at my in-laws’ genotyping results from one of the commercial services!

If you weren’t a scientist, what would you be doing?

Accounting, which was my backup career plan. Despite my struggles with academic budgets, I still have a real love for numbers and find organizing intensely satisfying.

Do you have any advice for people who want to go into this field of research or start a career as a scientist?

You'll need to do a PhD, so choose your lab and PI carefully. Talk to current PhD students and postdocs, get a sense of the culture of the lab and the institute. Consider applying to great places even if you don't immediately find the proposed projects exciting - a strong, enthusiastic, and supportive work environment is better for you and your science. Consider industry as an option from the beginning - most PhD students don't become tenured academics, but that doesn't mean they don't do science somewhere else!

What do you think are the major challenges facing humanity? How can science help?

I don’t know enough about the big one, climate change, to comment, but for me, another big one is an aging global population, and impending population shrinkage. Science can help with technology to make it easier to live well with aging and accompanying disability, economics to rebalance the cost burden onto the broadest shoulders, and medical science to prevent disability occurring in the first place and ameliorate pain and disease.