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Related Concept Videos

Genomics02:02

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...
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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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.
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Related Experiment Video

Updated: Jun 25, 2026

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
22:27

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

Exploring the human genome with functional maps.

Curtis Huttenhower1, Erin M Haley, Matthew A Hibbs

  • 1Department of Computer Science, Princeton University, Princeton, New Jersey 08540, USA.

Genome Research
|February 28, 2009
PubMed
Summary
This summary is machine-generated.

Researchers created functional maps of human cellular biology to understand complex genomic data. These maps integrate thousands of experiments, aiding the study of protein function, pathways, and genetic disorders.

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Last Updated: Jun 25, 2026

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
22:27

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

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)

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Area of Science:

  • Human molecular biology and systems biology.
  • Genomics and bioinformatics.

Background:

  • Vast amounts of human genomic data are available but difficult to integrate and interpret.
  • Understanding complex molecular biology requires systems-level analysis and functional context.
  • Investigating specific proteins, pathways, or diseases is challenging without curated functional summaries.

Purpose of the Study:

  • To develop functional maps integrating diverse human genomic and experimental data.
  • To create a systems-level view of human cellular biology for researchers.
  • To facilitate the study of specific pathways, protein functions, and genetic disorders.

Main Methods:

  • Utilized a regularized Bayesian integration system to analyze data from ~30,000 genome-scale experiments.
  • Mapped functional activity and interaction networks across over 200 areas of human cellular biology.
  • Employed methods for predicting protein function, identifying functional modules, and analyzing biological process crosstalk.

Main Results:

  • Generated comprehensive functional maps covering ~25,000 human genes.
  • Identified active biological processes within datasets and associated novel genes/pathways with genetic disorders.
  • Confirmed novel roles for five genes (AP3B1, ATP6AP1, BLOC1S1, LAMP2, RAB11A) in macroautophagy initiation.

Conclusions:

  • The developed functional maps provide a valuable resource for exploring human molecular biology.
  • The HEFalMp web interface enables interactive visualization and investigation of these complex biological networks.
  • This systems-level approach aids in understanding gene function, biological processes, and disease associations.