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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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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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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Organization of Genes02:07

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Overview
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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Genetic Material01:20

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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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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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The IGVF catalog-from genetic variation to function.

Daofeng Li1, Shane Liu1, Pedro R Assis2

  • 1Department of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis,MO 63110, United States.

Nucleic Acids Research
|December 8, 2025
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Summary
This summary is machine-generated.

The Impact of Genomic Variation on Function (IGVF) Consortium created an open-source data platform to map genomic variations to function and traits. This resource aids researchers in understanding how genetic differences influence biology and disease.

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Area of Science:

  • Genomics
  • Computational Biology
  • Systems Biology

Background:

  • Genomic variation is crucial for understanding molecular and cellular differences between individuals.
  • Linking genomic variation to function and phenotypes requires integrated experimental and computational approaches.

Purpose of the Study:

  • To establish the Impact of Genomic Variation on Function (IGVF) Consortium.
  • To develop an open-source platform, the IGVF Catalog, for data dissemination and analysis.
  • To explore the relationships between genomic variation, genome function, and phenotypes.

Main Methods:

  • Utilizing experimental techniques like single-cell mapping and genomic perturbation assays.
  • Employing computational approaches including machine learning-based predictive modeling.
  • Organizing diverse data types (over 50) within a large-scale graph database (3 billion nodes, 7.5 billion edges).

Main Results:

  • The IGVF Catalog integrates data on coding variants' effects on protein abundance and function.
  • It includes data on noncoding variants' effects on enhancer activity (MPRA and computational predictions).
  • The platform links variants to quantitative traits and provides public API endpoints and a user interface.

Conclusions:

  • The IGVF Catalog is a comprehensive, open-access resource for studying genomic variation's impact.
  • This platform will facilitate the scientific community's efforts to understand genome function and its role in disease.
  • Continued data integration and accessibility are expected to advance the field of genomics.