Modification of the short read alignment algorithm to improve the quality of the human whole genome sequencing data processing pipeline

This study emphasizes the importance of aligning short reads in analysis human whole-genome sequencing data. The alignment process involves determining positions genetic sequences relative to a known reference genome sequence genome. Traditional methods use linear sequence, but this can lead incorrect alignment, especially when contain variations. In work, index file was modified using minimap2 tool. Experimental results showed that adding information about frequently occurring variations increases number correctly identified variants, which affects quality subsequent data analysis.