Related Experiment Video
Updated: Jan 16, 2026
08:57
Amplicon Sequencing using the Long-Read Sequencing Technologies
Published on: August 29, 2025
484
Potential impact of long-read sequencing on complement-mediated diseases.
Sarah M Carpanini1, Rebecca Sims2
1UK Dementia Research Institute at Cardiff University, Maindy Road, CF24 4HQ Cardiff, UK; Division of Infection and Immunity, School of Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff, Wales CF14 4XN, UK.
Trends in Immunology
|October 3, 2025
Summary
Genetic variants in complement genes are linked to diseases. Long-read sequencing now allows exploration of previously unstudied repeat regions to find novel disease-associated genetic variations.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Complement genes play a crucial role in numerous diseases.
- Genetic variations within these genes contribute to disease pathogenesis.
- However, repeat-rich regions within complement genes remain largely unexplored for disease-relevant variants.
Purpose of the Study:
- To investigate the unexplored repeat-heavy regions of complement genes for novel genetic variations.
- To leverage advanced sequencing technologies for a comprehensive analysis of complement gene variation.
- To identify disease-relevant genetic variants within these challenging genomic areas.
Main Methods:
- Utilizing long-read sequencing (LRS) technology.
- Applying advanced bioinformatics tools for analyzing complex repeat regions.
- Focusing on the genetic architecture of complement genes.
Main Results:
- Long-read sequencing enables the characterization of previously inaccessible repeat regions.
- Identification of novel genetic variants within the 'dark' regions of complement genes.
- Demonstration of LRS's capability to uncover disease-relevant variation in complex genomic loci.
Conclusions:
- Long-read sequencing is a powerful tool for exploring repeat-rich genomic regions.
- This approach facilitates the discovery of novel genetic variants associated with various diseases.
- Understanding variation in complement gene repeat regions is critical for advancing disease research.
More Related Videos
Related Concept Videos
01:27Complement System
9.8K
The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a...
9.8K
03:00Next-generation Sequencing
97.7K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
97.7K
01:05Maxam-Gilbert Sequencing
12.6K
In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
Challenges of the Maxam-Gilbert Method
The...
12.6K
01:57Sanger Sequencing
773.2K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
773.2K
03:21RNA-seq
11.7K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
11.7K
01:20Mismatch Repair
6.3K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
6.3K