Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases
- Ana Conesa1,
- Alexander Hoischen2 and
- Fritz J. Sedlazeck3,4,5
- 1Institute for Integrative Systems Biology (I2SysBio), Spanish National Research Council (CSIC), Paterna 46980, Spain;
- 2Department of Human Genetics and Department of Internal Medicine, Radboudumc Research Institute for Medical Innovation, Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands;
- 3Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;
- 4Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA;
- 5Department of Computer Science, Rice University, Houston, Texas 77005, USA
This extract was created in the absence of an abstract.
We are excited to present Part 2 of the Special Issue on “Long-read DNA and RNA Sequencing Applications in Biology and Medicine,” following the success of Part 1. Due to the record number of submissions, we are thrilled to feature an additional 39 manuscripts showcasing the growing interest and groundbreaking science driven by long-read technologies.
In this Special Issue of Genome Research, we have assembled a diverse collection of articles highlighting novel methods, applications, and insights emerging from long-read technologies. This Special Issue contains four reviews, two perspectives, 16 research, and 17 method articles. While the long-read research primarily focuses on sequencing, such as Oxford Nanopore Technologies (ONT) and Pacific Biosciences (PacBio) HiFi-based sequencing, this Special Issue also highlights another long-read technology: optical genome mapping (OGM). Although not sequencing-based, OGM is particularly valuable for detecting large complex structural variants (SVs) and chromosomal aberrations.
The maturation of long-read sequencing (LRS) technologies, marked by enhanced accuracy, increased throughput, and reduced costs, has propelled a substantial expansion in human genetics and genomics research. This trend is clearly reflected in this Special Issue, where four review articles, authored by leading experts, and two perspective articles, predominantly emphasize human LRS application. These reviews and perspectives explore the contributions of LRS to human population sequencing, advancing our understanding of human genome architecture and SVs with improved genome assemblies and graph genomes (Rausch et al. 2025) and rare disease diagnostics, uncovering previously undetected variants in rare disease patients, with particular attention to SVs, short tandem repeat (STR) expansions, and variant phasing (Del Gobbo and Boycott 2025). They provide an update on the emerging use of LRS for direct readout of DNA modifications, notably DNA methylation (Montano and Timp 2025), and provide novel insights into cancer-related genomic and epigenomic alterations (Li et al. 2025). Another perspective focuses …
