reSEArch-EU - European University of the Seas

SEA EU Talent Comunication

Title: Genetic reference panels: importance for public health

Summary

For both common multifactorial disease and rare congenital disease, variations in the human genome can play important roles. But to understand complex genome-sequencing datasets requires knowledge of the genetic backdrop – we need panels of control individuals to serve as a reference. Natural (and most often neutral) variations in the genome arising from subtle differences in ancestry, for example between individuals from different European countries, further complicate this task. Specific statistical models are required and reference panels need to be suitably representative. My work centers on the construction of such panels, and their use for analyses such as missing genotype imputation, case-control epidemiological studies, and estimating population structure and history.

I will present ongoing work for a new and improved reference panel for France, describing the various challenges that we have faced along the road to its construction; as well as the perspective studies that we are planning.

Anthony Herzig short CV