Learn more about Joy through the following quick questions:

Hi Joy. What do you do at GenomSys, and what are you currently working on?Joy Bordini

Hi! I joined the GenomSys team to help the development of the GenomSys Variant Analyzer (GVA). In particular, now I’m working on the implementation of pipelines to identify variants in the germline for whole-exome sequencing and gene panels.

What is your take on personalized medicine, and what role does GenomSys play in that?

Personalized medicine is now becoming a focus of biotech companies and research institutions since it leads to tailored healthcare and an improved therapeutic decision process. The complexity of the diseases is to be reduced by additionally obtained data – for example, by genetic analysis – in order to facilitate the selection of the best possible treatment for the physician in the future on the basis of each individual’s patient profile. GenomSys steps in by providing a portable key to access the genomic information for everyone interested.

What is the most significant benefit of MPEG-G, in your opinion? 

MPEG-G is the principle behind the capability to analyze and securely provide genomic information. It ensures an efficient and cost-effective solution to the problem of handling a large amount of sequencing data through compression and selective access.

Genomic data and data privacy challenges. What is, in your opinion, a way to solve this issue?

A lot of solutions have been implemented, but this problem is quite tricky. Data anonymization can be an option, but given a large number of platforms able to provide more practical information about the genomic sample, is it useful? Thus I think that a combination of data encryption and logs of data access can increase the ability to guarantee genomic data privacy, which are built-in security features of the MPEG-G format.

Why did you join GenomSys?

GenomSys has an innovative and ambitious approach,  with the promise to introduce genomics into people’s daily lives to improve them. These cardinal traits reflect my personality completely, so the real question is, why not?

Do you listen to podcasts? What are you currently listening to?

I’m listening to Michelle Obama’s podcast: Across Generations; she talks about the ups and downs of professional life and what it’s like to be a black woman in this moment of history.

When you’re not programming for the GenomSys app, what do you do in your free time?

I like to be active. I enjoy doing sports, go running and do yoga. But I like to do additional programming to learn different things.

What is your favorite base in the DNA (adenine, guanine, cytosine, or thymine)?

My favorite base in DNA is Adenine; it’s very fascinating how it can change its role according to the biological request. It can be the purine base of DNA or can be our body’s energy as ATP and can bind both thymine in DNA or uracil in RNA.

Do you have a favorite chromosome, and why is this your favorite one?

My favorite chromosome is the first one, chromosome numero uno. It is the biggest one in humans (nearly 8% of the entire genome!), he’s the boss! I think also researchers were scared of him because it was the last chromosome to be sequenced by Human Genome Project.

Human Karyogram female
Photo credit: A geremia / Wikimedia Commons

If you have any further questions for Joy or about GenomSys, please feel free to contact us.

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