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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.

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.

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 Size and the Evolution of New Genes

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.

Genome Size and the Evolution of New Genes

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: May 13, 2026

Comprehensive Workflow for the Genome-wide Identification and Expression Meta-analysis of the ATL E3 Ubiquitin Ligase Gene Family in Grapevine

Comprehensive Workflow for the Genome-wide Identification and Expression Meta-analysis of the ATL E3 Ubiquitin Ligase Gene Family in Grapevine

Published on: December 22, 2017

TIARA genome database: update 2013.

Dongwan Hong¹, Jongkeun Lee, Thomas Bleazard

¹Cancer Genomics Branch, Division of Convergence Technology, National Cancer Center, Gyeonggi-do 410-769, Korea.

Database : the Journal of Biological Databases and Curation

|March 22, 2013

Summary

The Total Integrated Archive of short-Read and Array (TIARA) database now offers extensive human genome data, including rare variants. This update enhances the TIARA genome browser for analyzing personal genomic information and gene expression.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Related Experiment Videos

Last Updated: May 13, 2026

Comprehensive Workflow for the Genome-wide Identification and Expression Meta-analysis of the ATL E3 Ubiquitin Ligase Gene Family in Grapevine

Comprehensive Workflow for the Genome-wide Identification and Expression Meta-analysis of the ATL E3 Ubiquitin Ligase Gene Family in Grapevine

Published on: December 22, 2017

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

Genomics
Bioinformatics
Human Genetics

Background:

The Total Integrated Archive of short-Read and Array (TIARA) database integrates human genome data from diverse technologies.
Existing databases often lack comprehensive integration of various genomic data types and analytical tools.

Purpose of the Study:

To update and expand the TIARA database with high-coverage sequencing data from additional human individuals.
To enhance the TIARA genome browser for integrated analysis of genomic variants and gene expression.

Main Methods:

Integration of next-generation sequencing and high-resolution comparative genomic hybridization array data.
High-coverage whole-genome and transcriptome sequencing of human individuals.
Development of an integrated genome browser for simultaneous analysis of genomic variants and expression data.

Main Results:

The TIARA database now includes data for 13 whole genomes, 16 transcriptomes, and 33 array assays, with ~30× genome and 50× transcriptome sequencing depth.
Approximately 9.56 million SNPs and 1.19 million indels are available, including 23,025 non-synonymous SNPs.
The updated browser facilitates the observation of allele-specific gene expression quantification by matching transcriptome and whole-genome data.

Conclusions:

The expanded TIARA database provides a valuable resource for studying rare human variants.
The enhanced TIARA genome browser offers improved capabilities for personal genomic analysis and understanding gene expression patterns.