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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.2K
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

Human Genetics

936
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...
936
Genetic Variation01:25

Genetic Variation

944
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,...
944
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.8K
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...
14.8K
Pleiotropy01:33

Pleiotropy

41.8K
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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Heritability01:06

Heritability

387
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"...
387

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関連する実験動画

Updated: Nov 1, 2025

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

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人間の白質の微細構造に影響を与える一般的な遺伝的変異

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
PubMed
まとめ

研究者は4万3千人以上の白質の微細構造に影響を与える 遺伝的変異を特定しました これらの発見は 脳の配線を 病気や特徴と結びつけ 膠質細胞の役割を強調しています

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3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse
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3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse

Published on: May 19, 2015

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

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関連する実験動画

Last Updated: Nov 1, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

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

Published on: January 9, 2020

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3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse
15:26

3D Modeling of the Lateral Ventricles and Histological Characterization of Periventricular Tissue in Humans and Mouse

Published on: May 19, 2015

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

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科学分野:

  • 神経科学
  • 遺伝学
  • 神経イメージング

背景:

  • 脳の領域は 骨髄状の軸索から成る 白い物質経路で通信します
  • 白い物質の微細構造の 遺伝的基礎を理解することは 脳の健康に不可欠です

研究 の 目的:

  • 白質の微細構造に影響を与える一般的な遺伝子変異を特定する.
  • 白質の構造と複雑な特徴/疾患の間の遺伝的リンクを探求する.

主な方法:

  • 分散磁気共鳴画像 (dMRI) は43,802人の個人に使用された.
  • 全ゲノム関連分析 (GWAS) と経路特有の機能的主要成分分析が行われました.
  • 白質の微細構造と57の複雑な特徴/疾患の間の遺伝的相関を計算した.

主要な成果:

  • 白質の微細構造に影響する109の関連遺伝子が特定されました.
  • 経路特異的な分析により,30の場所が特定されました.
  • グリオマや脳卒中などの脳疾患の局所化は観察された.
  • 遺伝的相関が白質の微細構造と 57の複雑な特徴や病気を結びつけました
  • 関連する変異は,特にオリゴデンドロサイトにおける調節要素に影響した.

結論:

  • この研究は白質の遺伝子構造に 重要な洞察を与えてくれます
  • 白質の微細構造と 様々な臨床結果の 遺伝的関連性を明らかにしています
  • この発見は白質の遺伝学における 膠質細胞の役割を強調しています