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Next-generation Sequencing

Next-generation Sequencing

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.

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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...

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Related Experiment Video

Updated: Jul 6, 2026

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

Published on: March 31, 2022

Mapping translocation breakpoints by next-generation sequencing.

Wei Chen¹, Vera Kalscheuer, Andreas Tzschach

¹Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. wei@molgen.mpg.de

Genome Research

|March 11, 2008

Summary

This summary is machine-generated.

Next-generation sequencing of derivative chromosomes precisely maps disease-associated balanced chromosome rearrangements (BCRs). This advanced method rapidly identifies gene disruptions, aiding genetic disease diagnosis.

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Area of Science:

Genomics
Molecular Biology
Genetic Medicine

Background:

Balanced chromosome rearrangements (BCRs) are linked to genetic disorders by disrupting genes.
Traditional breakpoint mapping methods like BAC-FISH are laborious, time-consuming, and lack resolution.
Accurate breakpoint characterization is crucial for understanding genetic disease mechanisms.

Observation:

Shotgun sequencing of flow-sorted derivative chromosomes was performed using next-generation sequencing (Illumina/Solexa).
This platform provides sufficient coverage to bridge breakpoints in three disease-associated BCRs.
Polymerase chain reaction (PCR) amplification was used to bridge the identified breakpoints.

Findings:

The study successfully determined the exact nucleotide positions of breakpoints in disease-associated BCRs within weeks.
Next-generation sequencing offers significantly improved resolution compared to traditional methods.
The method demonstrated its efficacy in characterizing complex chromosomal abnormalities.

Implications:

This approach greatly facilitates large-scale breakpoint mapping for genetic disorders.
It accelerates gene discovery in patients with balanced translocations.
The findings pave the way for improved diagnostic tools and targeted therapies for genetic diseases.