Akköse Ümit, Adebali Ogün
Faculty of Engineering and Natural Sciences, Sabancı University, İstanbul, Turkey.
TÜBİTAK Research Institute for Fundamental Sciences, Gebze, Turkey.
Turk J Biol. 2023 Feb 21;47(2):158-163. doi: 10.55730/1300-0152.2650. eCollection 2023.
Sequence content is heterogeneous throughout genomes. Therefore, genome-wide next-generation sequencing (NGS) reads biased towards specific nucleotide profiles are affected by the genome-wide heterogeneous nucleotide distribution. Boquila generates sequences that mimic the nucleotide profile of true reads, which can be used to correct the nucleotide-based bias of genome-wide distribution of NGS reads. Boquila can be configured to generate reads from only specified regions of the reference genome. It also allows the use of input DNA sequencing to correct the bias due to the copy number variations in the genome. Boquila uses standard file formats for input and output data, and it can be easily integrated into any workflow for high-throughput sequencing applications.
基因组中的序列内容在整个基因组中是异质的。因此，偏向特定核苷酸谱的全基因组下一代测序（NGS）读数会受到全基因组异质核苷酸分布的影响。Boquila生成模仿真实读数核苷酸谱的序列，可用于校正NGS读数全基因组分布的基于核苷酸的偏差。Boquila可以配置为仅从参考基因组的指定区域生成读数。它还允许使用输入DNA测序来校正由于基因组中拷贝数变异引起的偏差。Boquila使用标准文件格式进行输入和输出数据，并且可以很容易地集成到任何高通量测序应用的工作流程中。
