Genomic variation across sequencing technologies : Benefit from long reads

Arnaud Di-Franco (Séminaire interne, plateforme Bioinformatique)

07 janv. 2022

The differences in DNA sequences between individuals make us who we are. These variations only represent a small proportion of our genome but can greatly influence our phenotype. They appear in different sizes and types and each have been proven to be link to various disease. This makes them of interest in serveral research fields such as population genetic, genomic or medicine. Here, I will show an overview of these variations and explain the bioinformatic challenges associated to their detection. I’ll present results demonstrating the impact of the new sequencing technologies on this matter and discuss the pros and cons over a few species.