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Related Concept Videos

Genomics02:02

Genomics

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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...
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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.
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Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...
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Related Experiment Video

Updated: Mar 1, 2026

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
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HUGIn: Hi-C Unifying Genomic Interrogator.

Joshua S Martin1, Zheng Xu2,3, Alex P Reiner4,5

  • 1Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.

Bioinformatics (Oxford, England)
|June 6, 2017
PubMed
Summary

A new web browser, HUGIn, visualizes Hi-C data from human tissues and cell lines. This tool helps understand chromatin contacts and their roles in genetic variations like GWAS SNPs and eQTLs.

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Area of Science:

  • Genomics
  • Epigenetics
  • Bioinformatics

Background:

  • High-throughput chromatin conformation capture (3C) technologies, like Hi-C, can reveal non-coding variant functions.
  • Most existing studies use cell lines, limiting generalizability to primary human tissues.

Purpose of the Study:

  • To develop a tool for visualizing Hi-C data from diverse human samples.
  • To enable the analysis of chromatin contacts in relation to genetic variants and regulatory elements.

Main Methods:

  • Development of the HUGIn web browser.
  • Visualization of Hi-C data from 21 human primary tissues and cell lines.

Main Results:

  • HUGIn allows assessment of constitutive and tissue-specific chromatin contacts.
  • The tool facilitates the analysis of genomic loci, including GWAS SNPs, eQTLs, and cis-regulatory elements.
  • Understanding of GWAS and eQTL results is improved through functional genomics data integration.

Conclusions:

  • HUGIn provides a valuable resource for exploring 3D genome organization across human tissues.
  • The tool aids in interpreting the functional impact of non-coding genetic variants.