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Abstract

Profound knowledge about the nature of mutational processes is essential for a comprehensive understanding of the evolutionary mechanisms that change genomes over time. The aim of the thesis is to elucidate the role of DNA insertions and deletions in this context. Compared with nucleotide substitutions, these types of mutations are far less understood. We perform a detailed genome-wide analysis of short DNA insertions and deletions that recently occurred in the human lineage. Our main finding is that insertions are predominately tandem duplications of adjacent sequence segments. We investigate the implications of this observation on possible molecular mechanisms of indel generation, large-scale statistical features of genomic base composition, and significance estimation of sequence alignment similarity scores.