I
sequenced myself in 2011,
and in 2013 I've joined the Understand
Your Genome (UYG) program, a movement promoted
by Illumina towards a better understanding of our DNA and its
implications for
healthcare with the mission of accelerating a true era of
precision medicine, serving
UYG as Key Opinion Leader to help accelerating the adoption of
genomics in
healthcare. The knowledge generated through the Human Genome
Projects has
changed genomics and is entering clinical practice. Genome
sequencing and data
analysis are essential components of the new precision
(personalized) medicine,
delivering customized diagnosis and treatment. In addition,
crucial for this
new kind of medicine are the knowledge of underlying mechanisms
of diseases,
the understanding of environment-biology interactions, and
evidence-based
interventions. I’ve sequenced the first human genome back in
2011. Since then, my lab has been evaluating every single aspect of whole
genome (WGS) and
whole exome (WES) sequencing and data analysis. With the time,
we realize that sequencing is like cooking. Having a professional oven
is not enough to
become a chef. There are many tip
and tricks that only people dedicated to “technology” are able
to learn and understand.
We perform
WES and WGS in collaboration with several hospitals, in
particular the Meyer
hospital in Florence, working side-by-side with their medical
geneticists. We fine
tune the technology, they distill the biology. Being a member of
the 1+M
genomes
initiatives, and being involved in the working
group “Good
sequencing practice / development of standards for clinical
interpretation”
helps us to maintain the highest standards.
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