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Related Concept Videos

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...
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...
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%...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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...
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.

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Related Experiment Video

Updated: Jun 13, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

A global map for introgressed structural variation and selection in humans.

PingHsun Hsieh1,2,3, Natthapon Soisangwan3, David S Gordon1

  • 1Department of Genetics, Cell Biology, and Development, University of Minnesota, Twin Cities, MN, USA.

Science (New York, N.Y.)
|June 11, 2026
PubMed
Summary
This summary is machine-generated.

Neanderthal and Denisovan genetic introgression introduced structural variants (SVs) into modern humans. Researchers mapped these archaic SVs, finding they impact genes and centromeres, especially in Papua New Guinea populations.

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Last Updated: Jun 13, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Published on: February 3, 2023

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Area of Science:

  • Genomics
  • Human Evolution
  • Population Genetics

Background:

  • Modern human genomes contain genetic material inherited from archaic humans like Neanderthals and Denisovans.
  • Discovering introgressed structural variants (SVs), which are large DNA segments, presents a significant challenge in genomics.

Purpose of the Study:

  • To create a comprehensive map of introgressed structural variants in modern human genomes.
  • To investigate the functional impact and adaptive significance of these archaic SVs, particularly in diverse populations.

Main Methods:

  • Integration of high-quality phased genome assemblies from Papua New Guinea (PNG) and other diverse ancestries.
  • Pangenome genotyping across a large sample set to identify and characterize SVs.
  • Analysis of SV enrichment in genes and association with immune-related traits.

Main Results:

  • An introgressed SV map was inferred, revealing enrichment in genes and genomic disorder regions.
  • 11 centromeres of likely archaic hominin origin were identified, expanding centromere genomics.
  • 16 adaptive SVs, many linked to immunity, were found in PNG genomes, suggesting a role in adaptation.

Conclusions:

  • Archaic SVs are a significant component of human genetic diversity, impacting gene function and centromere structure.
  • These introgressed SVs, particularly in PNG populations, may have conferred adaptive advantages, contributing to reproductive success and human evolution.