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Related Concept Videos

Human Virome01:26

Human Virome

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The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible...
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Human Genetics01:28

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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.
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Hybridoma Technology01:31

Hybridoma Technology

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Hybridoma technology is used for the large-scale production of monoclonal antibodies. Monoclonal antibodies bind to only a single antigenic determinant or epitope. Such antibodies are used in research, diagnostics, and disease therapy. The hybridoma technology established in 1975 by Georges Köhler and Cesar Milstein was awarded the Nobel Prize in Medicine in 1984 for revolutionizing research and therapy.
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Horizontal Gene Transfer

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Horizontal gene transfer (HGT) is a process where genetic material moves between organisms within the same generation, unlike vertical gene transfer, which occurs from parent to offspring. HGT plays a crucial role in microbial evolution, adaptation, and survival, particularly in shared environments like the human gut.Mobile genetic elements such as plasmids, prophages, integrons, insertion sequences, and transposons facilitate this process. HGT occurs through three primary mechanisms:...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Genetic Material01:20

Genetic Material

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Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.
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Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
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The Human Variome Project.

John Burn1, Michael Watson2

  • 1Newcastle University - Institute of Genetic Medicine, International Centre for Life Central Parkway, Newcastle upon Tyne, United Kingdom of Great Britain and Northern Ireland.

Human Mutation
|March 19, 2016
PubMed
Summary
This summary is machine-generated.

Understanding genetic variants is crucial for genomics. The Human Variome Project (HVP) was established to integrate variant data, overcoming interpretation barriers for inherited disorders.

Keywords:
GA4GHRichard CottonUNESCOVariome

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Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • Variant interpretation poses a significant challenge to the widespread application of DNA sequencing data.
  • Professor Dick Cotton pioneered efforts to address the need for understanding the human "variome."
  • The Human Variome Project (HVP) was launched in 2006 to integrate variant databases for inherited disorders.

Discussion:

  • The HVP established a global network across 81 countries, gaining recognition from UNESCO and a partnership with the World Health Organization.
  • The project's success relies on sustainable funding and synergy with the broader genomics community.
  • Advances in sequencing technology have dramatically increased the scale of variant identification.

Key Insights:

  • The HVP facilitates data integration through standardized infrastructure for genetic variation databases.
  • International collaboration is essential for cataloging and interpreting human genetic variants.
  • Addressing the challenge of variant interpretation is key to realizing the full potential of genomic medicine.

Outlook:

  • Future progress depends on securing long-term funding and integrating HVP's efforts with the Global Alliance for Genomics and Health.
  • Continued development of data standards and infrastructure is vital for managing large-scale genomic data.
  • The HVP aims to create a lasting legacy for understanding human genetic variation and its role in disease.