Greining av genetiska fjølbroytninum hjá føroyingum
Ílegusavnið, Fróðskaparsetrið og Aarhus Universitet
Noomi O. Gregersen og Palle Villesen
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.