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Related Concept Videos

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.
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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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 Variation01:25

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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.
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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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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
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Related Experiment Video

Updated: Nov 1, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Common genetic variation influencing human white matter microstructure.

Bingxin Zhao1, Tengfei Li2,3, Yue Yang4

  • 1Department of Statistics, Purdue University, West Lafayette, IN 47907, USA.

Science (New York, N.Y.)
|June 18, 2021
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Summary
This summary is machine-generated.

Researchers identified genetic variants impacting white matter microstructure in over 43,000 individuals. These findings link brain wiring to diseases and traits, highlighting glial cell roles.

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Area of Science:

  • Neuroscience
  • Genetics
  • Neuroimaging

Background:

  • Brain regions communicate via white matter tracts, composed of myelinated axons.
  • Understanding the genetic basis of white matter microstructure is crucial for brain health.

Purpose of the Study:

  • To identify common genetic variants influencing white matter microstructure.
  • To explore the genetic links between white matter structure and complex traits/diseases.

Main Methods:

  • Diffusion magnetic resonance imaging (dMRI) was used on 43,802 individuals.
  • Genome-wide association analysis (GWAS) and tract-specific functional principal components analysis were performed.
  • Genetic correlations were calculated between white matter microstructure and 57 complex traits/diseases.

Main Results:

  • 109 associated genetic loci were identified, influencing white matter microstructure.
  • 30 loci were specifically detected using tract-specific analysis.
  • Colocalization with brain diseases like glioma and stroke was observed.
  • Genetic correlations linked white matter microstructure to 57 complex traits and diseases.
  • Associated variants affected regulatory elements in glial cells, especially oligodendrocytes.

Conclusions:

  • This study provides significant insights into the genetic architecture of white matter.
  • It reveals genetic connections between white matter microstructure and various clinical outcomes.
  • The findings underscore the role of glial cells in white matter genetics.