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Related Concept Videos

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.
Genes exist in different versions called alleles,...
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Combinatorial Gene Control02:33

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Combinatorial gene control is the synergistic action of several transcriptional factors to regulate the expression of a single gene. The absence of one or more of these factors may lead to a significant difference in the level of gene expression or repression.
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
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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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What is Population Genetics?01:25

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Types of Genetic Transfer Between Organisms02:18

Types of Genetic Transfer Between Organisms

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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Updated: Aug 16, 2025

A Protocol for Using Gene Set Enrichment Analysis to Identify the Appropriate Animal Model for Translational Research
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Development and application of a computable genotype model in the GA4GH Variation Representation Specification.

Wesley Goar1, Lawrence Babb, Srikar Chamala

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Genomic variation data requires standardized exchange for health and clinical research. The Global Alliance for Genomics and Health (GA4GH) Variation Representation Specification (VRS) provides a model for precise data representation and interoperability.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Increasing genomic variation data necessitates standardized exchange formats for research and clinical applications.
  • Existing methods for representing genetic variation can lack precision and interoperability.
  • The Global Alliance for Genomics and Health (GA4GH) aims to establish standards for genomic data sharing.

Purpose of the Study:

  • To introduce and demonstrate the utility of the recent Genotype model within the GA4GH Variation Representation Specification (VRS).
  • To showcase how VRS can enable precise and interoperable representation of diverse genetic variation data.
  • To facilitate seamless data exchange and search operations between genomic knowledgebases.

Main Methods:

  • Utilizing the Global Alliance for Genomics and Health (GA4GH) Variation Representation Specification (VRS), specifically the Genotype and Haplotype models.
  • Applying VRS to represent pharmacogenomic diplotypes, Human Genome Variation Society (HGVS) variants, and Variant Call Format (VCF) records.
  • Demonstrating the disambiguation and concise representation of genetic variation concepts.

Main Results:

  • The Genotype model within VRS effectively represents the allelic composition of genetic loci.
  • VRS enables precise and interoperable representation of pharmacogenomic diplotypes, HGVS variants, and VCF records.
  • The developed approach facilitates enhanced data exchange and search capabilities.

Conclusions:

  • The GA4GH VRS, particularly the Genotype model, provides a robust solution for standardizing genomic variation data representation.
  • Implementing VRS promotes interoperability, enabling more effective data sharing and analysis in genomics and precision medicine.
  • This standardization is crucial for advancing research and clinical applications reliant on accurate genomic variation interpretation.