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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

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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.

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Related Experiment Video

Updated: Sep 15, 2025

Annotation of Plant Gene Function via Combined Genomics, Metabolomics and Informatics

Annotation of Plant Gene Function via Combined Genomics, Metabolomics and Informatics

Published on: June 17, 2012

Epilogos: information-theoretic navigation of multi-tissue functional genomic annotations.

Jacob Quon¹, Alex Reynolds¹, Nalu Tripician¹

¹Altius Institute for Biomedical Sciences, 2211 Elliott Avenue, Seattle, WA 98121, USA.

Biorxiv : the Preprint Server for Biology

|July 16, 2025

Summary

Epilogos simplifies navigating and interpreting functional genomics data using an information-theoretic framework. This tool visualizes thousands of chromatin state maps, aiding biological discovery.

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Area of Science:

Genomics
Bioinformatics
Computational Biology

Background:

Functional genomics data, including chromatin state maps, are crucial for understanding biological processes.
Existing datasets are vast and challenging to navigate and interpret effectively.

Purpose of the Study:

To present Epilogos, a novel framework for large-scale visualization, navigation, and interpretation of functional genomics annotations.
To apply Epilogos to over 2,000 human and mouse genome-wide chromatin state maps.

Main Methods:

Development of an information-theoretic framework for data analysis.
Construction of intuitive visualizations for multi-tissue chromatin state maps.
Implementation of algorithms for prioritizing genomic regions, identifying differential regions, and performing similarity searches.

Main Results:

Epilogos enables intuitive visualization of complex chromatin state data.
The framework successfully prioritizes salient genomic regions and identifies group-wise differential regions.
Rapid similarity search functionality is provided for regions of interest.

Conclusions:

Epilogos offers a user-friendly approach to interpreting large-scale functional genomics data.
The associated web browser and open-source software promote accessibility and adoption by the scientific community.