Hello, and Welcome!

I am the Human Genomics Team Leader at EMBL’s European Bioinformatics Institute in Cambridge, UK. The Human Genomics Team provides genome variation resources as part of the Ensembl project including the Ensembl Variant Effect Predictor (VEP) tool, human variation interpretation services such as the DECIPHER and Gene2Phenotype platforms, as well as the European Genome-phenome Archive (EGA) for managing sensitive human genomic and phenotypic data. I also co-founded and now co-coordinate the Federated EGA Network, a global network of repositories enabling secure discovery and access to sensitive human data. Finally, the Human Genomics Team is the home of Global Alliance for Genomics and Health (GA4GH) activities within the institute. The talented teams that build and maintain these resources are involved in a number of international projects and consortia that help curate, harmonise, standardise, process, display, and disseminate data to support research and clinical applications around the world.

How did I get here

After completing my BSc degree in Bioinformatics at Saint Vincent College, I earned my PhD in Bioinformatics at the University of Michigan studying post-transcriptional gene regulation in the model organisms C. elegans (nematode) and S. cerevisiae (budding yeast). I studied mechanisms of mRNA regulation and expression of small, functional RNAs including microRNAs and germline-specific piRNAs. I also studied protein-RNA interactions and how they contribute to post-transcriptional gene regulation. If interested, you can read more in my public thesis.

I then completed a postdoctoral fellowship at Johns Hopkins University, continuing my exploration of protein-RNA interactions through re-analysis of published deep sequencing data. I also piloted experiments directly sequencing full-length messenger RNAs in nematodes using Oxford Nanopore sequencing to explore the diversity of the nematode transcriptome.

During my postdoc, two key things happened that shaped the trajectory of my career. First, I gained an appreciation for the challenges facing researchers who want to re-use published datasets. Second, I joined the Galaxy Project team to develop and deliver bioinformatics training. These led to solidifying my passion for “Science as a Service”, specifically building and maintaining scientific services and infrastructure to support all researchers across the life sciences.

Connect with me on LinkedIn

Check out my CV

Research

Browse my Publications — journal articles, book chapters, and preprints

Browse my Other Research Outputs — posters, slides, and training materials/datasets from F1000Research and Zenodo

Communities

Some really cool communities that I am proud to be associated with:

Global Alliance for Genomics & Health

A policy-framing and technical standards-setting organization seeking to enable responsible genomic data sharing within a human rights framework

ELIXIR

A European life sciences infrastructure organisation which brings together scientists from more than 23 countries and more than 250 research institutes to build and run services that enable researchers to access and analyse data, to improve the value and impact of life science research on public health, the environment, and the economy

Open Life Science

A mentorship and training program for people interested in applying open principles in their work and becoming Open Science ambassadors in their communities

Galaxy Training Network

A collection of open bioinformatics tutorials and training resources developed and maintained by the global Galaxy community

Academic record

Interests

I love all things Open Science: open data, open and welcoming communities, open software, open workflows, open training materials, open publishing and peer-reviewing, oh my!

I love bringing people together who share common goals and have complementary talents to make great science happen

I love mentoring people to help them achieve their professional and personal goals