Abstract
AbstractHere 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.
Funder
The project was funded by the parliament of the Faroe Islands, the Danish parliament, the Faroese Research Council, and the Betri Foundation.
OM has received a research grant from the Faroese Research Council.
Lundbeckfonden
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference50 articles.
1. Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, et al. Exome sequencing and characterization of 49,960 individuals in the UK Biobank. Nature. 2020;586:749–56.
2. Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, et al. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 2016;354:aaf6814.
3. Als TD, Jorgensen TH, Børglum AD, Petersen PA, Mors O, Wang AG. Highly discrepant proportions of female and male Scandinavian and British Isles ancestry within the isolated population of the Faroe Islands. Eur J Hum Genet. 2006;14:497–504.
4. Jorgensen TH, Degn B, Wang AG, Vang M, Gurling H, Kalsi G, et al. Linkage disequilibrium and demographic history of the isolated population of the Faroe Islands. Eur J Hum Genet. 2002;10:381–7.
5. Joensen F, Steuerwald EU, Rasmussen NH. Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency. Ugeskr Laege. 2006;168:667–70.
Cited by
3 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献