Evaluating SNP detection in genomic data: a study on mutation patterns in the Estonian Biobank Data

Abstract

Single nucleotide variants provide a rich source of information on cellular and genomic processes and phenomena. Rare variants are especially of interest, since they are likely to have experienced the least influence from evolutionary forces, which is important in esti- mating mutation rates. However, high quality SNV data is necessary for this. The goal of this thesis is to examine the quality of newly discovered SNVs in the Estonian Biobank dataset by looking at mutation patterns. The findings show that the subset of newly discov- ered SNVs has significant quality issues compared to the subset of already known SNVs. These issues are likely attributable to mapping errors.