相关实验视频
Updated: Jul 5, 2025

10:36
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
12.1K
低通序测序和归算的警告故事,与哈普罗型准确性有关
David Wragg1, Wengang Zhang2, Sarah Peterson3
1The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK. David.Wragg@roslin.ed.ac.uk.
Genetics, selection, evolution : GSE
|January 12, 2024
概括
低通全基因组测序在狗中具有成本效益,但需要谨慎. 虽然它准确地归因于等位基因剂量,但分阶段准确性问题需要高深度测序来进行精确的单位基因分析.
科学领域:
- 基因组学就是基因组学.
- 动物育种 动物育种
- 生物信息学是一种生物信息学.
背景情况:
- 低通全基因组测序 (LPWGS) 和归算为在基因组研究中增加样本大小和统计能力提供了成本节省.
- 这种方法对畜牧养殖和潜在的伴侣动物基因组学有价值,以支持血统育种.
研究的目的:
- 评估低覆盖测序和以参考为导向的归算对犬类基因型一致性和关联分析的影响.
主要方法:
- 来自30只拉布拉多犬的唾液DNA在各种覆盖范围 (0.9X到43.5X) 进行了测序.
- 用不同的参考面板进行基因型归算.
- 协会分析使用单标记 (GEMMA) 和基于哈普类型 (XP-EHH) 的测试.
主要成果:
- 假定的基因型一致性显示了高覆盖率 (≥3.8X) 和非常低覆盖率 (0.9X) 之间的高相关性 (r ≥0.97),但XP-EHH的相关性较低 (r=0.58-0.88).
- 观察到分相精度问题,影响基于哈普洛型的分析,在测序深度之间存在不一致.
- 低通序列可以准确地归因于等位基因剂量,但需要对参考面板中的等位基因缺失保持谨慎.
结论:
- 唾液DNA适用于狗的全基因组测序,使得基于客户端的采样成为可能.
- 低通序列和归算需要仔细考虑参考面板的多样性,以尽量减少归算错误.
- 当需要精确分阶段的基因型进行分析时,建议进行高深度测序 (>20X).
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
RNA-seq
10.0K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.0K
Next-generation Sequencing
88.9K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
88.9K
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
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

