BMC Seminar - The effect of rare sequence variants on hematological QTL
BMC Seminar Thursday 15 April, 12:00
Speaker: Guðjón Reykdal Óskarsson, doctoral student at DeCODE genetics
Title: Assessing the effect of rare sequence variants in genome-wide association studies of quantitative hematological traits
Abstract: Mutations leading to severe phenotypes or having large effects on quantitative traits are more likely to be rare due to negative selection. Also, sequence variants with large phenotypic effect sizes are enriched within a coding sequence of the genome. Studying these rare sequence variants therefore increases the probability of finding variants that give insight in to physiology and pathways involved in the functional role of a gene on a disease or traits.