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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

Human Genetics

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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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Evolutionary Relationships through Genome Comparisons02:54

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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...
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Comparing Copy Number Variations and SNPs02:26

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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.
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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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.
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Related Experiment Video

Updated: Sep 15, 2025

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

Biorxiv : the Preprint Server for Biology
|July 16, 2025
PubMed
Summary
This summary is machine-generated.

Archaic structural variants (SVs) from Neanderthals and Denisovans are found in modern human genomes, particularly in Papua New Guinea. These introgressed SVs impact genes and centromeres, potentially driving human adaptation.

Keywords:
Human evolutionadaptive introgressionstructural variation

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Area of Science:

  • Human evolutionary genomics
  • Population genetics
  • Ancient DNA studies

Background:

  • Modern human genomes contain genetic material introgressed from archaic hominins like Neanderthals and Denisovans.
  • Discovering introgressed structural variants (SVs), defined as ≥50 base pairs, presents significant technical challenges.

Purpose of the Study:

  • To create a comprehensive map of archaic introgressed SVs by integrating new and existing genome assemblies.
  • To investigate the distribution, functional implications, and adaptive significance of these introgressed SVs in diverse human populations.

Main Methods:

  • Integration of high-quality phased genome assemblies from four Papua New Guinea (PNG) individuals with 94 publicly available assemblies.
  • Inference of an archaic introgressed SV map using comparative genomics approaches.
  • Pangenome genotyping across 1,363 samples to identify candidate adaptive SVs.

Main Results:

  • A map of archaic introgressed SVs was generated, revealing enrichment in genes (44%) and critical genomic disorder regions.
  • Introgressed SVs were found to be most abundant in the PNG population.
  • Eleven centromeres likely of archaic origin were identified, alongside 16 candidate adaptive SVs in PNG, many linked to immune genes.

Conclusions:

  • Archaic SV introgression is a substantial component of human genome diversity, particularly in certain regions like PNG.
  • Introgressed SVs, including novel centromeric structures, have functional and potentially adaptive roles in modern humans.
  • Archaic introgression, especially of SVs, likely played a significant role in human reproductive success and adaptive evolution.