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Sanger Sequencing

Sanger Sequencing

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...

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Updated: Jun 16, 2026

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

Published on: October 5, 2018

High-throughput complement component 4 genomic sequence analysis with C4Investigator.

Wesley M Marin¹, Danillo G Augusto^1,2,3, Kristen J Wade¹

¹Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, San Francisco, California, USA.

|October 30, 2023

Summary

This summary is machine-generated.

Complement component 4 (C4) gene variation impacts immune function. A new bioinformatics tool, C4Investigator, enables high-throughput analysis of C4A and C4B sequences, revealing extensive genetic diversity and potential disease associations.

Keywords:

C4 bioinformatics pipeline complement component copy number genotyping immunogenetics

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High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

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Published on: October 5, 2018

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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Published on: June 23, 2012

Area of Science:

Genetics and Genomics
Immunology
Bioinformatics

Background:

The complement component 4 (C4) genes (C4A and C4B) are critical for immune system pathways.
C4 genes exhibit complex variations including copy number, size (long/short forms), and linkage to blood group antigens (Rodgers/Chido).
Previous high-throughput genomic analysis of C4 variants was challenging due to high sequence similarity and genetic complexity.

Purpose of the Study:

To develop a novel bioinformatics pipeline, C4Investigator, for comprehensive, high-throughput characterization of human C4A and C4B sequences.
To enable detailed analysis of C4 gene copy number, size variants, and nucleotide-level sequence variations from short-read sequencing data.
To investigate the extent of C4A and C4B genetic variation in human populations.

Main Methods:

Development of a bioinformatics pipeline named C4Investigator.
Input processing of paired-end targeted or whole genome sequencing data.
Analysis of C4 gene copy numbers, C4A/C4B variants, Rodgers/Chido epitopes, and long/short forms (C4(L)/C4(S)).
Generation of full aligned C4A and C4B sequences for nucleotide-level analysis.

Main Results:

C4Investigator successfully characterizes comprehensive C4A and C4B sequence variation from short-read data.
Analysis of the 1000 Genomes Project dataset revealed that C4 genes are highly poly-allelic.
Numerous identified variants have the potential to significantly impact C4 protein function and immune response.

Conclusions:

C4Investigator provides a robust solution for high-throughput genomic analysis of complex C4 gene variations.
The high degree of C4 poly-allelism underscores its importance in immune system regulation and disease susceptibility.
Further research into C4 variants can elucidate their roles in autoimmune and pathogenic diseases.