相关实验视频
Updated: Jul 12, 2025
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
11.7K
血中的马赛克染色体改变跨祖先使用全基因组测序
Yasminka A Jakubek1, Ying Zhou2, Adrienne Stilp3
1Department of Internal Medicine, University of Kentucky, Lexington, KY, USA.
Nature genetics
|October 31, 2023
概括
血液中的马赛克染色体变化 (mCA) 是疾病标志物. 全基因组测序揭示了mCA率的祖先差异,欧洲祖先显示出更高的自体的mCA和较低的X染色体mCA.
科学领域:
- 基因组学就是基因组学.
- 人类遗传学 人类遗传学
- 疾病生物标志物 疾病生物标志物
背景情况:
- 血液中的马赛克染色体变化 (mCA) 作为各种人类疾病的预后指标.
- 了解不同遗传群体的mCA患病率对于精准医学至关重要.
研究的目的:
- 在基因多样化的队列中调查mCA率.
- 为了比较全基因组测序与基于数组数据的敏感性,用于mCA检测.
- 为了确定与mCA发生和祖先的遗传关联.
主要方法:
- 分析了来自国家心脏,肺和血液研究所Trans-Omics精准医学计划中的67,390名个人的全基因组测序数据.
- 在低突变细胞分数的全基因组测序和基于阵列的方法之间的mCA检测灵敏度的比较.
- 统计分析以确定mCA,罕见变异和祖先之间的关联.
主要成果:
- 全基因组测序表明,与基于阵列的数据相比,在低突变细胞分数下检测mCA的灵敏度更高.
- 与非洲或西班牙裔祖先相比,欧洲血统的个人表现出自体性mCA的最高率和X染色体mCA的最低率.
- 确定了与X染色体损失相关的三个位点,自体mCA与罕见变体 (DCPS,ADM17,PPP1R16B,TET2) 之间的关联,以及与cis-mCA的祖先特异变体 (ATM,MPL).
结论:
- 全基因组测序是一种敏感的方法,可以在不同种群中检测mCA.
- 存在基于祖先的mCA率的显著差异,特别是在自体和X染色体变异方面.
- 特定位置的遗传变异与mCA相关,突出了未来研究的潜在机制和目标.
相关概念视频
01:11Genome-wide Association Studies-GWAS
13.5K
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...
GWAS does not require the identification of the target gene involved in...
13.5K
02:26Comparing Copy Number Variations and SNPs
17.7K
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%...
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%...
17.7K