AUTHOR=Szakállas Nikolett , Barták Barbara K. , Valcz Gábor , Nagy Zsófia B. , Takács István , Molnár Béla TITLE=Can long-read sequencing tackle the barriers, which the next-generation could not? A review JOURNAL=Pathology and Oncology Research VOLUME=30 YEAR=2024 URL=https://www.por-journal.com/journals/pathology-and-oncology-research/articles/10.3389/pore.2024.1611676 DOI=10.3389/pore.2024.1611676 ISSN=1532-2807 ABSTRACT=

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.