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Jueves, 16 de marzo de 2017


SEMINARIO "Relevance of population genomics in the search for genetic variants involved in clinical phenotypes"

Fecha: 27/03/2017
Hora: 12:00 h
Lugar: Germans Trias i Pujol Research Institute, IGTP, Programme of Predictive and Personalized Medicine of Cancer, PMPPC. IGTP mountain building

Ponente: Francesc Calafell Institut de Biologia Evolutiva (IBE-CSIC-UPF)

Several epidemiologic designs have been implemented to search for genetic variants that affect clinically relevant phenotypes. Of those, Genome Wide Association Studies (GWAS), in which affected cases are compared to healthy controls, are the most popular. I will argue that knowing the genetic structure and history of the populations being analyzed is of crucial importance for the correct interpretation of the GWAS results. Hidden population stratification can easily lead to false positives that can be detected and avoided. New methods being applied to the inference of population history allow detecting which haplotypes have been carried by migration from one population to another, and to put a date to these movements. In admixed populations, once can mask the parts of the genome that have been contributed by a donor population, so as to work with genomes of a homogeneous background, which can be of undoubted interest in genomic epidemiology.

I will also touch briefly on additional information that genomic analysis can provide to the overall composition of their ancestry, as well as about the origin and history of their maternal and paternal lineages, as reflected in their mtDNA and Y chromosome. I will use as example our own experience on the Catalan Surname Project.