Revolutionizing genomics and medicine—one long molecule at a time
- 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, 6525 GA 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.
Long-read sequencing (LRS) has matured, and the dramatically increased accuracy, ever-increasing throughput, and access now allow new and advanced studies even at scale. This Special Issue of Genome Research on “Long-read DNA and RNA Sequencing Applications in Biology and Medicine” garnered a record number of submissions, reflecting both the intense and broad interest in the technologies and the next round of revolutionary genomic science enabled by them. This interest is rooted in that all long-read technologies combine the core benefit of utilizing much longer DNA molecules (from tens of kb to Mb-scale), which offers several benefits common to most long-read technologies including: improved sensitivity to structural variants (SVs), detection of (complex) cytogenetic aberrations; the ability to assemble and phase genomes, with the potential to move away from variants to alleles/haplotypes; sensitivity for repeat expansion/contraction detection; and access to the “dark genome,” for example, repeat-rich and GC-rich areas of the human genome, even including segmental duplications (SegDups) or other sequence homologies.
In this first of two Special Issues, we have assembled a diverse collection of research and review articles highlighting the novel applications and developments around long-read sequencing. The trends that can be deduced from this Special Issue are that a steadily increasing amount of human genome and transcriptome studies are now enabled, more assembly-based analyses show the power of long-read sequencing, and non-human studies showcase the value for non-reference and model species.
Two-thirds of all manuscripts in this issue include the study of human samples, especially focusing on germline testing and rare diseases genetics. It's …
