Hereditary Genetics: Current Research

The genetics of common diseases

4^th International Congress on Epigenetics & Chromatin

September 03-05, 2018 | London, UK

Kari Stefansson

deCODE genetics, Iceland

Scientific Tracks Abstracts: Hereditary Genet Curr Res

Abstract:

At deCODE genetics in Iceland we have sequenced the whole genomes of 50.000 Icelanders or 12.5% of the nation and genotyped 180.000 or 60% of the nation. In addition we have the genealogy of the entire nation going centuries back in time on a computer database. This allows us to impute sequence variants with allelic frequency down to about 0.01% into all genotyped individuals and their first and second degree relatives. We are in the privileged position of being able to phase the entire genomes of all Icelanders. This has allowed us to determine whether there is a difference in the impact of sequence variants depending on the parent it is inherited from. Taking advantage of this we have found sequence variants that increase the risk of disease when it is inherited from one sex and protect against the same when it is inherited from the other sex. Furthermore, we have discovered a number of sequence variants where there is a difference in the size of the effect depending on the parent of origin. Hence, a parent of origin analysis of associations between variants in the sequence and diversity in phenotypes is a part of our daily routine. Furthermore, we have combined whole genome oxidative bisulfite sequencing of 285 individuals and allele specific RNA sequencing of 11,617 blood samples with parnet-of-orgin phased haplotyes, to produce a new map of imprinted methylation and gene expression pattern across the human genome. Through this we have, for example, gained new insights into parent of origin specific effects on phenotypes

Biography :