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Related Concept Videos

Genome Annotation and Assembly03:36

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.
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Organization of Genes

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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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Ribosome Profiling02:24

Ribosome Profiling

Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...

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Related Experiment Video

Updated: May 25, 2026

Annotation of Plant Gene Function via Combined Genomics, Metabolomics and Informatics
08:09

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

Published on: June 17, 2012

Identifying functional annotation for noncoding genomic sequences.

Douglas P Mortlock1, Steven Pregizer

  • 1Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Current Protocols in Human Genetics
|January 14, 2012
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies identify many disease-linked genetic variants, often in noncoding DNA. New tools and data enhance the functional assessment of these noncoding variants using regulatory annotation.

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Last Updated: May 25, 2026

Annotation of Plant Gene Function via Combined Genomics, Metabolomics and Informatics
08:09

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Published on: June 17, 2012

An Integrated Approach for Microprotein Identification and Sequence Analysis
09:37

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Published on: July 12, 2022

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • Genome-wide association studies (GWAS) have identified numerous genetic variants associated with human diseases.
  • A significant proportion of these disease-associated variants are located in noncoding genomic regions.
  • Functional annotation of noncoding regions has historically been limited, hindering the interpretation of GWAS findings.

Purpose of the Study:

  • To provide an overview of available regulatory annotation data types for noncoding genetic variants.
  • To discuss approaches for analyzing noncoding variant data.
  • To highlight the utility of the UCSC genome browser in assessing the functional significance of noncoding variants.

Main Methods:

  • Review of current regulatory annotation datasets.
  • Description of computational and visualization approaches for noncoding variant analysis.
  • Demonstration of UCSC genome browser functionalities for integrating diverse genomic data.

Main Results:

  • Availability of various regulatory annotation tracks (e.g., enhancers, promoters, transcription factor binding sites).
  • Integration of multiple data sources enables a more comprehensive assessment of variant function.
  • The UCSC genome browser facilitates the visualization and interpretation of noncoding variants within their regulatory context.

Conclusions:

  • Enhanced functional annotation is crucial for interpreting GWAS results, particularly for noncoding variants.
  • Utilizing diverse regulatory data and tools like the UCSC genome browser improves the understanding of genetic contributions to disease.
  • Future research should focus on expanding functional annotation resources for noncoding genomes.