To celebrate the amazing talent within the Australian bioinformatics community, we will be featuring fellow COMBINE members and senior researchers every month. We are also working on a student profile page on our website to showcase the diverse research conducted across Australia. We welcome students across any stage of their bioinformatics journey to submit their profile via this google form to be included in either the monthly interviews, our socials, or featured on our website.
First up – COMBINE’s very own president – Patricia Sullivan!
1. What do you study?
I am in my second year of a bioinformatics PhD with the Children’s Cancer Institute and UNSW. My research is on developing tools to predict the impact of genetic variants on splicing. I also apply these to identify disease-causing genetic variants in paediatric cancers and rare diseases.
2. How did you end up in bioinformatics?
I ended up in bioinformatics in the third year of my genetics and biotechnology undergraduate degree because I realised that wet lab work wasn’t for me. After attending a lecture on whole genome sequencing and its applications (from my now supervisor A/Prof Mark Cowley), I reached out to enquire about honours in bioinformatics. I started an internship with the lab early to make sure that I wasn’t making a horrible decision, and I haven’t looked back (or touched a pipette) since!
3. One sentence to describe your experience with bioinformatics.
A constant seesaw between frustration at your code not working and pure joy when it finally does!
4. What do you enjoy the most about working on bioinformatics?
It’s both a blessing and a curse, but you can work anywhere and at any time! Getting the work-life balance right is tricky though.
9. What excites you about what you do?
Finding the genetic variant(s) which are causing a patient’s disease is absolutely the best part of my work. I’m also in a position where I can see these findings go on to influence patient care, which is a great motivator.
10. Tell us a fact about yourself that not many people know
I was awarded a Fulbright Future Scholarship to study at the Broad Institute’s Center for Mendelian Genomics in Boston next year. I haven’t yet told my university… So, this is the first official announcement!
11. What do you like to do outside of work?
I have recently started to learn to play ice hockey, and the rest of my time is spent with friends or in lazy mode.
12. Twitter handle (or other contact details)
Twitter: @patsullivann
14. Favourite meme?
This really sums up paper writing for me…