Can long-read sequencing tackle the barriers, which the next-generation could not? A review

Szakállas, Nikolett ✉ [Szakállas, Nikolett (Biofizika, bioinf...), author] Doctoral School of Physics (ELTE / ELU FoS); Barták, Barbara K. [Barták, Barbara Kinga (Orvostudományok), author] Department of Internal Medicine and Oncology (SU / FM / C); Valcz, Gábor [Valcz, Gábor (gasztroenterológia), author] Department of Internal Medicine and Oncology (SU / FM / C); HUN-REN-SE Translational Extracellular Vesicle ... (SU / FM / I / DGCI); Nagy, Zsófia B. [Nagy, Zsófia Brigitta (Orvostudomány), author] Department of Internal Medicine and Oncology (SU / FM / C); Takács, István [Takács, István (Endokrinológia), author] Department of Internal Medicine and Oncology (SU / FM / C); Molnár, Béla [Molnár, Béla (belgyógyászat, ga...), author] Department of Internal Medicine and Oncology (SU / FM / C)

English Survey paper (Journal Article) Scientific
Published: PATHOLOGY AND ONCOLOGY RESEARCH 1219-4956 1532-2807 30 Paper: 1611676 , 12 p. 2024
  • SJR Scopus - Medicine (miscellaneous): Q2
Identifiers
Fundings:
  • (NKFI-143002)
  • (FK0201NEPE/ TKPNKTA-47)
  • Nemzeti Kardiovaszkuláris Laboratórium(RRF-2.3.1-21-2022-00003) Funder: NRDIO
  • (KDP-2023/C2270480)
Subjects:
  • Clinical medicine
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.
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2026-10-08 18:36