TY - JOUR
T1 - Long and Accurate
T2 - How HiFi Sequencing is Transforming Genomics
AU - Wang, Bo
AU - Jia, Peng
AU - Gao, Shenghan
AU - Zhao, Huanhuan
AU - Zheng, Gaoyang
AU - Xu, Linfeng
AU - Ye, Kai
N1 - Publisher Copyright:
© The Author(s) 2025. Published by Oxford University Press and Science Press on behalf of the Beijing Institute of Genomics, Chinese Academy of Sciences / China National Center for Bioinformation and Genetics Society of China.
PY - 2025/2/1
Y1 - 2025/2/1
N2 - Recent developments in PacBio high-fidelity (HiFi) sequencing technologies have transformed genomic research, with circular consensus sequencing now achieving 99.9% accuracy for long (up to 25 kb) single-molecule reads. This method circumvents biases intrinsic to amplification-based approaches, enabling thorough analysis of complex genomic regions [including tandem repeats, segmental duplications, ribosomal DNA (rDNA) arrays, and centromeres] as well as direct detection of base modifications, furnishing both sequence and epigenetic data concurrently. This has streamlined a number of tasks including genome assembly, variant detection, and full-length transcript analysis. This review provides a comprehensive overview of the applications and challenges of HiFi sequencing across various fields, including genomics, transcriptomics, and epigenetics. By delineating the evolving landscape of HiFi sequencing in multi-omics research, we highlight its potential to deepen our understanding of genetic mechanisms and to advance precision medicine.
AB - Recent developments in PacBio high-fidelity (HiFi) sequencing technologies have transformed genomic research, with circular consensus sequencing now achieving 99.9% accuracy for long (up to 25 kb) single-molecule reads. This method circumvents biases intrinsic to amplification-based approaches, enabling thorough analysis of complex genomic regions [including tandem repeats, segmental duplications, ribosomal DNA (rDNA) arrays, and centromeres] as well as direct detection of base modifications, furnishing both sequence and epigenetic data concurrently. This has streamlined a number of tasks including genome assembly, variant detection, and full-length transcript analysis. This review provides a comprehensive overview of the applications and challenges of HiFi sequencing across various fields, including genomics, transcriptomics, and epigenetics. By delineating the evolving landscape of HiFi sequencing in multi-omics research, we highlight its potential to deepen our understanding of genetic mechanisms and to advance precision medicine.
KW - Centromere
KW - Complex genomic region
KW - Genome assembly
KW - Long-read sequencing
KW - Variant detection
UR - https://www.scopus.com/pages/publications/105010481897
U2 - 10.1093/gpbjnl/qzaf003
DO - 10.1093/gpbjnl/qzaf003
M3 - 文献综述
C2 - 39918981
AN - SCOPUS:105010481897
SN - 1672-0229
VL - 23
JO - Genomics, proteomics & bioinformatics / Beijing Genomics Institute
JF - Genomics, proteomics & bioinformatics / Beijing Genomics Institute
IS - 1
M1 - qzaf003
ER -