Language
English
Publication Date
4-14-2025
Journal
Genome Research
DOI
10.1101/gr.279975.124
PMID
40228901
PMCID
PMC12047252
PubMedCentral® Posted Date
4-1-2025
PubMedCentral® Full Text Version
Post-print
Abstract
Over the past decade, long-read sequencing has evolved into a pivotal technology for uncovering the hidden and complex regions of the genome. Significant cost efficiency, scalability, and accuracy advancements have driven this evolution. Concurrently, novel analytical methods have emerged to harness the full potential of long reads. These advancements have enabled milestones such as the first fully completed human genome, enhanced identification and understanding of complex genomic variants, and deeper insights into the interplay between epigenetics and genomic variation. This mini-review provides a comprehensive overview of the latest developments in long-read DNA sequencing analysis, encompassing reference-based and de novo assembly approaches. We explore the entire workflow, from initial data processing to variant calling and annotation, focusing on how these methods improve our ability to interpret a wide array of genomic variants. Additionally, we discuss the current challenges, limitations, and future directions in the field, offering a detailed examination of the state-of-the-art bioinformatics methods for long-read sequencing.
Keywords
Humans, Genomics, Sequence Analysis, DNA, High-Throughput Nucleotide Sequencing, Genome, Human, Computational Biology, Molecular Sequence Annotation
Published Open-Access
yes
Recommended Citation
, "A Hitchhiker’s Guide to Long-Read Genomic Analysis" (2025). Faculty, Staff and Students Publications. 5117.
https://digitalcommons.library.tmc.edu/baylor_docs/5117