Greining av genetiska fjølbroytninum hjá føroyingum
Ílegusavnið, Fróðskaparsetrið og Aarhus Universitet
Noomi O. Gregersen, Thomas Damm Als og Guðrið Andorsdóttir
Stuðul úr Granskingargrunninum:
The demographic history of the isolated population of the Faroe Islands, together with skewed morbidity observed in hereditary diseases, provide strong indications of genetic drift. The population therefore presents great opportunities to discover novel genotype-phenotype relationships, in order to better understand the mechanisms of hereditary diseases. However, in order to take full advantage of this potential, a deeper knowledge of the genetic makeup of the population is paramount. The Genealogy Registry describes familial relationships among the Faroese people. The unprecedented detail of this multigeneration registry makes it a unique resource that is tremendously useful for studying the genetic basis of hereditary disease. In this thesis, I will use next-generation sequencing data in combination with genealogy data to gain insight into the genetic makeup of the Faroese population. Three articles will be published. The first two articles will explore the stratification, diversity and inbreeding within the population. The third article will focus on predicting a complex phenotypic trait, namely stature. The efforts to better understand the genetic makeup of the populaon will improve our ability to predict stature. All relevant data and procedures used to predict stature will be made publicly and readily available, which will enable other researchers to take full advantage of the results of this thesis, and apply these soluons to their own problems. This includes data describing the population stratification, and procedures to use this information, for example how to correct for stratification.
The main result of this project is a catalog of coding variants in the Faroese population. Additionally, the Multi-Generation Registry was used to describe population structure. Tools and procedures were developed in this process, in order to work with sequencing data as well as genealogical records.
We have curated a catalog of coding variants, and are in the process of writing a paper about this catalog. The paper describes the content of this catalog, how it was developed, variant frequencies and population structure. This catalog can be used as a variant reference, and will benefit both researchers and clinicians.
Tools and procedures were developed to work with the Multi-Generation Registry. The results include a description of population structure and inbreeding. Additionally, the Multi-Generation Registry was used to select participants for two genetic studies, such that these participants are not closely related. The method used for participant selection was described in a manuscript as well as in a presentation at Vísindavøkan 2020.
We have created datasets and developed procedures to work with genetic data in FarGen Phase 1. This work is a foundation for the FarGen project, and the results from this work will benefit researchers working with genetics in the Faroe Islands.
The project was intended as a PhD-project, this part has not been completed yet.
Scientific articles, books, thesis etc.
Mortensen et al. 2019 Using dried blood spot samples from a trio for linked-read whole-exome sequencing
Mortensen et.al. 2022 FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands
Other results, such as unpublished articles, patents, computer systems, original models and new procedures
Manuscript: Selecting samples for whole-genome sequencing through genealogical relatedness
Poster: Genealogical records indicate cryptic relatedness within the FarGen cohort
Software: LinkSeq (https://github.com/olavurmortensen/linkseq)
Software: PedGraph (https://github.com/olavurmortensen/pedgraph)
Publications outside the scientific community, i.e. lectures, periodicals, articles in newspapers, television and radio
Radio: KVF, Tey Forvitnu, 2019
Presentation: Vísindavøkan, Ættarbond, ættarbregði og ílegur: Háttaløg í sambandi við Ættarbandsskránna, 2020
Storage and access rights til collected data
All data in this project is stored on the FarGen Cluster. Access may be granted in collaboration with the Genetic Biobank.