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Related Concept Videos

Human Virome01:26

Human Virome

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 only with...
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...
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...
Genetic Variation01:25

Genetic Variation

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.
Genes exist in different versions called alleles, which...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Horizontal Gene Transfer01:27

Horizontal Gene Transfer

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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Initiating a Human Variome Project Country Node.

Jumana AlAama1, Timothy D Smith, Alan Lo

  • 1Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Human Mutation
|February 10, 2011
PubMed
Summary
This summary is machine-generated.

Establishing national genetic data repositories is crucial for diagnosing and treating genetic diseases. The Human Variome Project facilitates this by creating country nodes to collect and share vital patient information globally.

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Area of Science:

  • Genetics and Genomics
  • Bioinformatics
  • Public Health

Background:

  • Genetic diseases pose a significant global health challenge.
  • Accessible clinical and genetic data are essential for effective diagnosis and treatment.
  • Existing data sharing mechanisms are insufficient for comprehensive genetic disorder management.

Purpose of the Study:

  • To outline a procedure for establishing national genetic data collection systems.
  • To support the Human Variome Project's goal of creating a global network of genetic data repositories.
  • To facilitate systematic collection and sharing of genetic, clinical, and biochemical information.

Main Methods:

  • Gathering case studies of existing genetic data collection initiatives within countries.
  • Incorporating recommendations from the global genetics community.
  • Developing a standardized procedure for establishing national Human Variome Project (HVP) Country Nodes.

Main Results:

  • Identified key considerations for systematic genetic data collection, including ethical and cultural sensitivity.
  • Demonstrated the feasibility of establishing HVP Country Nodes, with existing nodes in several countries.
  • Proposed a framework for countries to develop their own genetic data collection systems.

Conclusions:

  • Standardized practices for genetic data collection are vital for improving clinical practice, research, and therapy.
  • The Human Variome Project provides a framework for global collaboration in genetic data management.
  • Establishing national repositories enhances the ability to diagnose and treat patients with genetic disorders.