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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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Updated: Jan 2, 2026

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

Published on: May 23, 2018

High throughput barcoding method for genome-scale phasing.

David Redin¹, Tobias Frick¹, Hooman Aghelpasand¹

¹Royal Institute of Technology (KTH), School of Engineering Sciences in Chemistry, Biotechnology and Health, Department of Gene Technology, Science for Life Laboratory, SE-171 65, Solna, Sweden.

Scientific Reports

|December 4, 2019

Summary

This summary is machine-generated.

Researchers developed a new method to improve DNA sequencing by preserving molecular origins of short reads. This technique enables accurate reconstruction of large-scale genetic phase blocks for medical genomics applications.

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G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome

G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome

Published on: March 22, 2018

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Advancing human genomics requires comprehensive genetic variation analysis.
Medical applications necessitate cost-efficient, accurate sequencing with long-range haplotyping and structural variant detection.
Short-read sequencing technologies have limitations in achieving long-range haplotyping and reliable structural variant calling.

Purpose of the Study:

To develop a cost-efficient technology that enhances short-read sequencing capabilities.
To enable accurate long-range haplotyping and structural variant detection for medical genomics.
To reconstruct megabase-scale phase blocks from short sequencing reads.

Main Methods:

Developed a novel library preparation method for high-throughput barcoding of short DNA reads.
Utilized millions of random barcodes to preserve the molecular origin of sequencing reads.
Implemented a method to reconstruct large-scale genomic structures from barcoded short reads.

Main Results:

Demonstrated a technology that preserves the molecular origin of short sequencing reads.
Achieved reconstruction of megabase-scale phase blocks with minimal cost increase.
Provided a solution to overcome limitations of short-read sequencing for complex genomic analyses.

Conclusions:

The developed technology significantly enhances the utility of short-read sequencing for medical genomics.
This approach offers a cost-effective solution for accurate long-range haplotyping and structural variant detection.
Enables a more comprehensive understanding of genetic variation essential for future genomic medicine.