| Autor: |
Ólavur, Mortensen, Elisabet, Thomsen, Leivur N, Lydersen, Katrin D, Apol, Pál, Weihe, Bjarni Á, Steig, Guðrið, Andorsdóttir, Thomas D, Als, Noomi O, Gregersen |
| Rok vydání: |
2022 |
| Zdroj: |
European journal of human genetics : EJHG. |
| ISSN: |
1476-5438 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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