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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.

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...

RNA-seq

RNA-seq

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 microarray-based...

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Related Experiment Video

Updated: Jun 11, 2026

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Published on: August 4, 2016

Targeted exon sequencing by in-solution hybrid selection.

Brendan Blumenstiel¹, Kristian Cibulskis, Sheila Fisher

¹Broad Institute, Cambridge, Massachusetts, USA.

Current Protocols in Human Genetics

|June 29, 2010

Summary

This summary is machine-generated.

This protocol details targeted exon enrichment from genomic DNA using in-solution hybrid selection for Illumina sequencing. It covers oligo pool design, library preparation, and analysis for efficient exome sequencing.

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Area of Science:

Genomics
Molecular Biology
Next-Generation Sequencing

Background:

Targeted enrichment is crucial for efficient exome sequencing.
Hybrid selection offers a powerful method for isolating specific DNA regions.

Purpose of the Study:

To describe a protocol for targeted exon enrichment using in-solution hybrid selection.
To guide the design and preparation of genomic DNA libraries for Illumina sequencing.

Main Methods:

In-solution hybrid selection of randomly sheared genomic DNA libraries.
Design and ordering of custom hybrid selection oligonucleotide pools.
Preparation and hybrid selection of Illumina paired-end libraries.

Main Results:

Detailed review of critical steps in the hybrid selection protocol.
Discussion of key parameters, performance metrics, and analysis workflow.
Successful application for targeted exome enrichment on Illumina Genome Analyzer II.

Conclusions:

The described protocol provides a robust method for targeted exome enrichment.
Optimized library preparation and hybrid selection are key for high-quality sequencing data.
This approach facilitates efficient and accurate genomic analysis.