Genetic Variation Study in the Faroese Population
Explore the genetic variation within the Faroese population through case-control genotype-phenotype studies, isolation and homogeneity research, and experiment designs using various sequencing technologies like linked-reads and whole-genome sequencing. Population genetic analyses, including bottleneck effects and population structure, provide insights into the unique genetic makeup of the Faroe Islands. PhD funding and project details are also highlighted.
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Elucidating the genetic variation within the Faroese population lavur Mortensen olavur@fargen.fo
Case-control genotype-phenotype association studies Controls Cases
Isolation and homogeneity Als et al. 2006. Als et al. 2014 (poster)
Experiment design 1500 samples: WES (linked-reads) Coding variants Custom WG chip Ultra low-coverage WGS Smaller subset: High coverage WGS (linked-reads) Haplotypes, structural variants
Linked-read sequencing Source: www.10xgenomics.com
Linked-reads Fragment barcoding Source: www.10xgenomics.com
Linked-reads Haplotype assembly Source: www.10xgenomics.com
Population-scale linked-read sequencing Pipeline for population-based linked-read data coming soon!
Thank you PhD funding: Supervisors: Noomi O. Gregersen, PhD FarGen, project manager Thomas D. Als, PhD Associate professor, Department of Biomedicine, Aarhus Universitet Contact: olavur@fargen.fo
Population genetics Bottlenecks Genetic drift
Population structure Genealogy Sequencing
Experiment design 1500 samples: Whole-exome sequencing Whole-genome genotyping Custom chip with exome variants Ultra low-coverage WGS? E.g. Ros-Freixedes et al. 2017 Whole-genome linked-read sequencing Haplotypes Structural Variants
Objectives Database of genetic variants Demographic inference Polygenic risk prediction of adult height
WES + WGS + microarray WES + low-coverage WGS + microarray Linked-reads + long reads + microarray
Population genetic processes Bottlenecks Genetic drift
