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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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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...
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...
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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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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

GENETICS. The Human Variome Project.

Richard G H Cotton1, Arleen D Auerbach, Myles Axton

  • 1Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia. cotton@unimelb.edu.au

Science (New York, N.Y.)
|November 8, 2008
PubMed
Summary
This summary is machine-generated.

A new initiative is collecting and organizing data on genetic variations impacting human health. This valuable information is becoming more accessible to researchers worldwide.

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Last Updated: Jun 28, 2026

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

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07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Genetics
  • Bioinformatics
  • Genomic Medicine

Background:

  • Genetic variations are crucial for understanding human health and disease.
  • Previous efforts to consolidate this data have been fragmented.
  • A comprehensive resource is needed to accelerate research.

Purpose of the Study:

  • To establish a centralized, accessible repository for genetic variation data.
  • To facilitate the study of genotype-phenotype relationships.
  • To support precision medicine initiatives.

Main Methods:

  • Developing robust data collection and curation pipelines.
  • Implementing standardized data formats and ontologies.
  • Creating user-friendly platforms for data access and analysis.

Main Results:

  • Significant progress has been made in data acquisition and integration.
  • The initial dataset includes a growing number of genetic variations.
  • Early user feedback indicates the platform's utility.

Conclusions:

  • The plan to create a comprehensive genetic variation database is progressing.
  • This resource promises to be a valuable asset for the scientific community.
  • Increased accessibility of genetic data will drive health research forward.