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How much can our DNA actually tell us? And what happens when some of its most important information stays out of sight?
These were among the questions explored by Mirko Coggi, Chief Research Officer and Co-Founder of GenoGra, during his interview on L'Italia in diretta on Rai Radio1, now available on RaiPlay Sound.
The starting point was PANPHORTE, the computational method presented in a study led by Mirko with the GenoGra team and Politecnico di Milano, published in Frontiers in Bioinformatics. But rather than diving into technical details, Mirko opened with a familiar analogy:
"Think of DNA as a vast biological instruction manual. It holds much of the information that shapes how our cells, and our whole body, work."
Why a single reference genome is not enough
That manual matters because it carries clues about who we are and how we respond to illness and treatment.
"Many of our traits, from eye colour to the predisposition to certain diseases, to how we respond to a drug, are partly written in our DNA."
Yet most genetic analyses still compare an individual's DNA against a single reference genome, used as a standard model for comparison.
As Mirko put it on air:
"A single average genome cannot represent the full genetic variability of a population."
Pangenomics addresses this limit by combining many genomes into a much richer map. Even so, some variations can stay out of sight, especially those involving repeated stretches of DNA.
"It's not a single DNA letter that changes. It's how many times a DNA sequence is repeated."
PANPHORTE helps bring these Copy Number Variations (CNVs) to the surface by making them explicit within pangenome graphs. We covered the method in detail in our previous article on PANPHORTE and the ANSA coverage.
From better representation to better understanding
For Mirko, the value of this work is not only computational.
"When a genetic variation is better represented, it becomes much easier to study it and understand its potential role in disease research, genetic predispositions and drug response."
While the genetic causes of some conditions are already well understood, more accurate representations of DNA could help researchers investigate conditions whose underlying genetic mechanisms remain unclear.
Listen to Mirko Coggi's interview on RaiPlay Sound
The interview is in Italian and starts at 51:25.
Listen to L'Italia in diretta (July 16, 2026) on RaiPlay Sound
For a deeper look at the science, read the original study in Frontiers in Bioinformatics.
Curious about how pangenome graphs work in practice? Explore the GenoGra platform