FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands

Ólavur Mortensen, Elisabet Thomsen, Leivur N. Lydersen, Katrin D. Apol, Pál Magni Weihe, Bjarni á Steig, Guðrið Andorsdóttir, Thomas D. Als, Noomi O Gregersen

Research output: Contribution to journalArticlepeer-review

1 Downloads (Pure)

Abstract

Here we present results from FarGen Phase I exomes. This dataset is based on the FarGen cohort, which consists of 1,541 individuals
from the isolated population of the Faroe Islands. The purpose of this cohort is to serve as a reference catalog of coding variants,
and to conduct population genetic studies to better understand the genetic contribution to various diseases in the Faroese
population. The first whole-exome data set comprise 465 individuals and a total of 148,267 genetic variants were discovered.
Principle Component Analysis indicates that the population is isolated and weakly structured. The distribution of variants in various
functional classes was compared with populations in the gnomAD dataset; the results indicated that the proportions were
consistent across the cohorts, but probably due to a small sample size, the FarGen dataset contained relatively few rare variants. We
identified 19 variants that are classified as pathogenic or likely pathogenic in ClinVar; several of these variants are associated with
monogenetic diseases with increased prevalence in the Faroe Islands. The results support previous studies, which indicate that the
Faroe Islands is an isolated and weakly structured population. Future studies may elucidate the significance of the 19 pathogenic
variants that were identified. The FarGen Phase I dataset is an important step for genetic research in the Faroese population, and
the next phase of FarGen will increase the sample size and broaden the scope.
Original languageEnglish
Article numbers41431-022-01227-2
Number of pages9
JournalEuropean Journal of Human Genetics
Volume00
Issue number00
Publication statusPublished - 21 Nov 2022

Keywords

  • FarGen
  • genetic
  • Faroe Islands
  • FarGen phase I dataset
  • dataset

Fingerprint

Dive into the research topics of 'FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands'. Together they form a unique fingerprint.

Cite this