Nemzeti Kardiovaszkuláris Laboratórium(RRF-2.3.1-21-2022-00003) Támogató: NKFIH
(KDP-2023/C2270480)
Szakterületek:
Klinikai orvostan
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.