Publications by authors named "Katrin D Apol"

Background: The aim of this study was to investigate overall vitamin D status in the Faroese population and assess the correlation between vitamin D levels and various sociodemographic and anthropometric factors, including sex, age, exercise, alcohol and tobacco consumption, BMI, body fat percentage, and seasonal variations. To the best of our knowledge, this is the first study of vitamin D levels across all adult age groups within the Faroese population.

Methods: P25-hydroxyvitamin D concentrations, anthropometric measurements and questionnaires from 1748 individuals enrolled in the FarGen 2 cohort were collected.

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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.

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The demographic history of the Faroe Islands makes this isolated population - founded in the 9th century - interesting for genetic research. The goal of the FarGen project was to recruit individuals to the FarGen infrastructure to promote research into the genetic features of the Faroese people, and to develop a reference panel of population-specific variants. We aimed to recruit 1500 individuals.

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Long-term collection of dried blood spot (DBS) samples through newborn screening may have retrospective and prospective advantages, especially in combination with advanced analytical techniques. This work concerns whether linked-reads may overcome some of the limitations of short-read sequencing of DBS samples, such as performing molecular phasing. We performed whole-exome sequencing of DNA extracted from DBS and corresponding whole blood (WB) reference samples, belonging to a trio with unaffected parents and a proband affected by primary carnitine deficiency (PCD).

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