Related Experiment Video

Updated: Jan 16, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
08:57

Amplicon Sequencing using the Long-Read Sequencing Technologies

Published on: August 29, 2025

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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
PubMed

Insights

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.

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