相关实验视频

Updated: Jun 27, 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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基因组序列分析确定了多个系统缩的新风险位置

Ruth Chia1, Anindita Ray2, Zalak Shah2

  • 1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Neuron
|May 3, 2024
PubMed
概括

这项研究确定了多重系统缩 (MSA) 的新型遗传风险因素,这是一种罕见的神经退行性疾病. 这些发现提升了对MSA的理解.

关键词:
在GWAS中,GWAS就是GWAS.在MSA中,MSA是MSA.在TWAS中,它是TWAS.定位化,定位化的地方.基因负担分析 基因负担分析全基因组关联研究研究.多个系统缩.路径分析 路径分析重复扩张映射重复扩张映射转录组广泛的关联研究研究.整个基因组的测序.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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相关概念视频

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.
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Single Nucleotide Polymorphisms-SNPs

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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