Spracovanie štatistických dát z optického mapovania

Abstract

Optical mapping is a DNA sequencing technology. It is a technology that evaluates the results obtained by traditional sequencing techniques. The advantage are longer reads and bigger coverage. This is critical, for example, for detecting large structural variants. Currently, the best equipment in this area is Saphyr from Bionano Genomics. The Access is then used for data processing. When processing a single sample, a large amount of data is generated in many files. The main goal of this work will be a practical tool that will simplify the statistical processing of this data.