Detekce strukturálních variant v genomech dvou druhů slavíků

Halenková, Zuzana

Structural variants are mutations in DNA sequence affecting the location, orientation, or the number of copies of regions longer than 50 bp. Although this type of variation has the potential to cause large phenotypic changes, structural variants remain largely understudied compared to other classes of variation (such as single nucleotide polymorphisms) due to the difficulties associated with their detection. Nevertheless, it was suggested that structural variants could play a profound role in the evolution of species. Inversions particularly are considered to be a potent mechanism for both adaptation and speciation due to their ability to suppress recombination. This thesis provides the first insight into the structural variation between two closely related naturally hybridizing species, the common nightingale (Luscinia megarhynchos) and the thrush nightingale (Luscinia luscinia). Structural variants were detected using long-read sequence data and high-quality de novo whole genome assemblies from one individual per species. High-confidence sets of structural variants were built by the intersection of results from several structural variant calling methods separately for each reference genome and included 18 839 variants for the common nightingale reference and 19 864 variants for the thrush...

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