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Biology subjects

Wasik, K. A.

Publications and source records attributed to Wasik, K. A..

2 recordsLinked to original sources

Faroese Whole Genomes Provide Insight into Ancestry and Recent Selection

The Faroe Islands are home to descendants of a North Atlantic founder population with a unique history shaped by both migration and periods of relative isolation. Here, we investigate the genetic diversity, population structure, and demographic history of the islands by analyzing whole genome sequencing data from 40 participants in the Faroe Genome Project. This represents the first whole genome sequencing panel of this size from the Faroe Islands. We observed numerous putatively functional private alleles, including stop gain variants and high impact missense variants in the cohort. Faroese individuals had a higher proportion of their genomes contained in long runs of homozygosity than other European groups, including Finnish, suggesting a more recent or stronger bottleneck in the Faroese population. Signals of positive selection were identified at loci containing genes that play roles in vitamin D and dietary fat absorption and DNA repair, while increased diversity on lactase persistence haplotypes was observed. Fine-scale analysis of haplotype structure in present-day and ancient European genomes revealed genetic affinities with ancient Iron Age individuals from the North and West of Europe, providing evidence for potential contributions to the Faroese gene pool from Celtic and Viking populations as well as information about the temporal order in which these events happened. This study highlights the impact of evolutionary processes, such as ancient admixture, founder events, and positive selection, on the present-day genetic architecture of North Atlantic founder populations like the Faroe Islands.

genetics↗

Whole-genome Studies of Malagasy People Uncover Novel Body Composition Associations

The majority of human genomic research studies have been conducted in European ancestry cohorts, at the loss of detecting potentially novel and globally impactful findings. Here, we present the first whole genome sequence data and genome-wide association study in a cohort of 264 Malagasy individuals from three locations on the island of Madagascar. We describe genetic variation in this Malagasy cohort, providing insight into the shared and unique patterns of genetic variation across the island. We observe phenotypic variation by location, and find high rates of hypertension particularly in the Southern Highlands as well as elevated malaria prevalence in the West Coast relative to other sites. We find a number of genetic associations with body composition traits, including many variants that are unique to African populations or populations with admixed African ancestry such as Madagascar. This study highlights the utility of including diverse populations in genomic research for the potential to gain novel insights, even with small cohort sizes. This project was conducted in partnership and consultation with local Malagasy stakeholders and serves as an example for equitable genomic research with potential impacts on our understanding of human health and disease.

genomics↗