Nordic Exome Variant Catalogue

Project leader: Aarno Palotie

Postdoc: Priit Palta

Exome Aggregation Consortium (ExAC) coding variant dataset has proven to be an extremely useful resource and tool to facilitate research in human medical and population genetics. We will create a similar data resource for Nordic countries, including Estonia. By providing population-specific (and through requested look-ups also individual-level) allele frequencies for human coding variants, this eScience data resource would greatly benefit the scientific community in the field of human genetics and genomics and therefore would increase the competitive advantage of genetic research towards improvement of human health in all Nordic countries. Our aim is to create the Nordic Exome Variant Catalogue by collecting available human exome variant data from all participating countries (initially data for 15 000, 5000 and 5000 whole-exome sequenced individuals from Finland, Estonia and Norway, repectively). The collected data will be aggregated by populations (countries), maintaining the cohort-specific information. This data will be stored in a secure database server at CSC (Finnish IT Center for Science).

Outcome 1: Allele frequency database publicly available to the scientific community
For this we plan to update our existing web-based user interface (SISu variant browser: that would allow searching and browsing the collected data as population-specific summary data – allelic distribution information for all coding variants together with corresponding functional and variant effect/consequence annotations.

Outcome 2: Access routine for individual-level WES data
We will implement an integrated inquiry system that for a small fee (to ensure sustainability) would facilitate requesting access to the cohort-specific and individual-level genotype and phenotype data directly from the population/cohort ‘owner’ and corresponding DAC.