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Related Concept Videos

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-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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...
Genetic Material01:20

Genetic Material

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.
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,...
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...

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Related Experiment Video

Updated: May 20, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Human Variome Project country nodes: documenting genetic information within a country.

George P Patrinos1, Timothy D Smith, Heather Howard

  • 1Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece. gpatrinos@upatras.gr

Human Mutation
|July 4, 2012
PubMed
Summary

The Human Variome Project establishes country-specific genetic variation databases to quantify disease burden and support clinical genetics. Recommendations from the International Confederation of Countries Advisory Council meeting will guide future efforts.

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Last Updated: May 20, 2026

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genomics
  • Bioinformatics
  • Public Health

Background:

  • The Human Variome Project (HVP) is an international initiative to catalog human genetic variation.
  • HVP relies on gene/disease-specific databases and a network of Country Nodes for data collection.
  • Country Nodes are crucial for documenting population-specific genomic variation and its impact.

Purpose of the Study:

  • To report discussions and recommendations from the inaugural International Confederation of Countries Advisory Council meeting.
  • To outline steps for maximizing the impact of HVP Country Nodes.
  • To identify successful genetic data collection initiatives as models for future projects.

Main Methods:

  • The study is based on discussions and recommendations from the International Confederation of Countries Advisory Council meeting.
  • Analysis of outcomes from the 2011 Human Variome Project Beijing Meeting.
  • Summarization of existing genetic data collection initiatives.

Main Results:

  • Key discussions focused on the development and operation of Human Variome Project Country Nodes.
  • Recommendations were made to enhance the impact of Country Nodes in developing regional clinical genetics resources.
  • Several well-coordinated genetic data collection initiatives were identified as potential paradigms.

Conclusions:

  • The successful operation of Human Variome Project Country Nodes is vital for quantifying genetic disease burden globally.
  • These nodes provide essential resources for diagnosticians and researchers in clinical practice and biomedical research.
  • Strategic planning and adoption of successful models are necessary to advance the HVP's goals.