Every month, one member of the TGMI team will tell us why they are so committed to the vision of the TGMI, and share a bit more about their work and interests. This week we hear from TGMI team member and bioinformatician Shawn Yost.
What has been the main focus of your work to date?
I have been working on analysing next-generation sequencing data from both tumour and germline samples. During my Ph.D., I focused on accurately identifying true somatic variants in non-ideal tumor samples (FFPE, mouse model, and high normal contamination samples). While working at the Institute of Cancer Research in Sutton I have switched my focus to germline variant analysis, specifically of cancer predisposition genes. I am currently working on creating and testing various outputs of the TGMI.
What are you most excited about in genetic medicine?
That from day to day we are increasing the number of genetic diseases for which we can accurately identify the causal mutation. To me, not knowing why you or a loved one is ill can be more painful than the illness itself.
What are you most concerned about in genetic medicine?
Misinformation! I believe the thing that can cause the most harm in genetic medicine is the spreading of incorrect information.
Why did you get involved in the TGMI?I got involved in the TGMI because I believe in its purpose to facilitate the advancement of genetic medicine. The outputs that will be generated by the TGMI will set up standards for people to use world-wide. These standards will make it easier for labs/clinicians to share results. With the ever expanding Terabytes of genetic data being generated we will need these standards in order to quickly and accurately analyse the data.
What is the most important thing that you would like the TGMI to achieve?
Standardising the transcripts and annotation used to annotate genomic variants. I spend way too much of my time confirming that two genomic variants identified from two separate labs are the same variants.
If you had a magic wand (i.e. unlimited people/resources) what would you do to make genetic medicine work?
I would create a ‘perfect’ world-wide electronic healthcare record system. This system would have the patient’s full health records from birth, family history, and their clinical whole genome sequencing. Having this system working in every hospital world-wide is probably the most important aspect. This would help genetic researchers bring together the small group of people world-wide that have the same very rare (1/1,000,000) genetic disease and bring them together in order to identify the causal mutation.
Do you have a favourite gene? If so – what and why?
No I currently don’t have a favourite gene… However I hope to someday make a novel discovery about an unknown gene and name it YOST. When that day comes my answer will then be the YOST gene.
What is a surprising fact that few people know about you?
Most people wouldn’t know that I am a mirror image identical twin. This basically means that my twin brother looks as if I were to look into a mirror. For example, I’m right handed (he is left handed), I have a dimple on my right cheek (left cheek for him), and my hair rotates anti-clockwise (his rotates clockwise).
If you had a chance to experience a completely different career for a week, what job would you try?
The week would have to be the last week of the FIFA World Cup and I would switch careers with a centre forward. Being a professional soccer (USA) player was my childhood dream… Or a stand-up comedian, who wouldn’t want to make people laugh.