相关实验视频
Updated: Jul 3, 2025

12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
20.7K
泛基因组基因型结构变异改善了牛群中的分子表型映射.
Alexander S Leonard1, Xena M Mapel2, Hubert Pausch1
1Animal Genomics, ETH Zurich, 8092 Zurich, Switzerland alleonard@ethz.ch hubert.pausch@usys.ethz.ch.
Genome research
|February 14, 2024
概括
这项研究将泛基因组学与短读数据相结合,以识别牛群中的数百万个遗传变异,包括结构变异. 这些变异有助于揭示新的表达和拼接定量特征位点 (e/sQTL),揭示可转移元素作为关键调节者.
科学领域:
- 基因组学就是基因组学.
- 定量特征位置 (QTL) 分析.
- 人口遗传学 人口遗传学
背景情况:
- 表达和拼接定量特征位点 (e/sQTL) 显著促进表型变异.
- 准确的e/sQTL映射需要具有基因型和分子表型的大队伍.
- 短读序列努力全面解决复杂的结构变异.
研究的目的:
- 使用HiFi哈普洛型解析组件构建一个牛泛基因组.
- 在大型牛群中识别和基因型化小型和结构变异.
- 使用全面的变体集进行e/sQTL映射并识别新的关联.
主要方法:
- 从16个HiFi哈普洛型解决的牛群组合构建一个泛基体.
- 使用PanGenie工具对307个短读样本进行基因定型.
- 使用短读和中度覆盖的HiFi数据验证结构变体.
- 117头牛的e/sQTL映射与丸转录组数据.
主要成果:
- 在称为PanGenie基因型和DeepVariant的小变异之间具有很高的一致性 (>90%).
- 对大约2100万个小变异和43,000个结构变异进行了鉴定和基因型定型.
- 85%的结构变体 (MAF > 0.1) 的验证.
- 发现了92种结构变异作为eQTL和73种sQTL的因果候选.
- 大约一半的顶部相关结构变体是可转移的元素.
- 通过包括结构变异来识别28个额外的eQTL和17个sQTL.
结论:
- 基于泛基因组的基因组定型使得牛群中小型和结构变异的全面识别成为可能.
- 结构变异,特别是可移植的元素,在调节基因表达和拼接方面发挥着重要作用.
- 将结构变异集成到e/sQTL分析中,可以更深入地了解遗传结构和表型变异性.
相关概念视频
Genome-wide Association Studies-GWAS
13.4K
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...
13.4K
Comparing 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
Incomplete Dominance
22.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.6K
Evolutionary Relationships through Genome Comparisons
5.7K
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...
5.7K
Single Nucleotide Polymorphisms-SNPs
15.1K
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,...
15.1K

