Модификация алгоритма выравнивания коротких прочтений для повышения качества пайплайна обработки данных полногеномного секвенирования человека

Abstract

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