Department of Biological Physics, Faculty of Science, Eötvös Loránd University, Budapest, Hungary.
Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
Pathol Oncol Res. 2024 May 16;30:1611676. doi: 10.3389/pore.2024.1611676. eCollection 2024.
The large-scale heterogeneity of genetic diseases necessitated the deeper examination of nucleotide sequence alterations enhancing the discovery of new targeted drug attack points. The appearance of new sequencing techniques was essential to get more interpretable genomic data. In contrast to the previous short-reads, longer lengths can provide a better insight into the potential health threatening genetic abnormalities. Long-reads offer more accurate variant identification and genome assembly methods, indicating advances in nucleotide deflect-related studies. In this review, we introduce the historical background of sequencing technologies and show their benefits and limits, as well. Furthermore, we highlight the differences between short- and long-read approaches, including their unique advances and difficulties in methodologies and evaluation. Additionally, we provide a detailed description of the corresponding bioinformatics and the current applications.
遗传性疾病的大规模异质性需要更深入地研究核苷酸序列改变,以发现新的靶向药物攻击点。新测序技术的出现对于获取更具解释性的基因组数据至关重要。与之前的短读长相比,更长的读长可以更好地洞察潜在的威胁健康的遗传异常。长读长提供了更准确的变异识别和基因组组装方法,表明核苷酸相关研究取得了进展。在这篇综述中,我们介绍了测序技术的历史背景,并展示了它们的优势和局限性。此外,我们还强调了短读长和长读长方法之间的差异,包括它们在方法学和评估方面的独特进展和困难。此外,我们还详细描述了相应的生物信息学和当前的应用。