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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
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Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

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.
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Evolutionary Relationships through Genome Comparisons

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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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Related Experiment Video

Updated: Dec 19, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Long-read human genome sequencing and its applications.

Glennis A Logsdon¹, Mitchell R Vollger¹, Evan E Eichler^2,3

¹Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Nature Reviews. Genetics

|June 7, 2020

Summary

Long-read DNA sequencing offers high accuracy and long read lengths, revolutionizing genomics. This technology enables comprehensive human genetic variation analysis and disease mechanism discovery.

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Last Updated: Dec 19, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Transcriptomic Analysis of C. elegans RNA Sequencing Data Through the Tuxedo Suite on the Galaxy Project

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Published on: April 8, 2017

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Published on: June 3, 2019

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Long-read, single-molecule DNA sequencing technologies have advanced significantly over the past decade.
These platforms offer read lengths from tens to thousands of kilobases with high accuracy.

Purpose of the Study:

To highlight the capabilities of long-read sequencing in genomics.
To discuss its potential to resolve complex genomic regions and structural variants.
To project its future impact on diploid genome assembly and understanding human genetic variation.

Main Methods:

Utilizing long-read, single-molecule DNA sequencing platforms.
Generating long DNA reads with high accuracy.
Assembling challenging genomic regions and whole chromosomes.

Main Results:

Demonstrated ability to resolve difficult human genome regions.
Successful detection of previously inaccessible structural variants.
Generation of telomere-to-telomere assemblies of whole chromosomes.

Conclusions:

Long-read sequencing is poised to enable routine diploid genome assembly.
This will revolutionize genomics by revealing the full spectrum of human genetic variation.
It will aid in resolving missing heritability and discovering novel disease mechanisms.