相关实验视频
Updated: Jul 16, 2025

08:38
Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
37.2K
两种变异分析程序的比较,用于下一代测序整个线粒体基因组的数据
Seung Eun Lee1, Ga Eun Kim1, Hajin Kim1
1Laboratory of Forensic Medicine, Department of Anatomy and Cell Biology, Sungkyunkwan University School of Medicine, Suwon, Korea.
Journal of Korean medical science
|September 12, 2023
概括
对线粒体DNA的下一代测序 (NGS) 分析对法医和医学至关重要. 两个软件程序在变量调用中显示出90%的一致性,其中一个在法医应用中表现出色.
科学领域:
- 遗传学 是一个遗传学.
- 生物信息学是一种生物信息学.
背景情况:
- 越来越多地使用下一代测序 (NGS) 已经扩大了线粒体DNA (mtDNA) 分析的应用.
- mtDNA分析在法医科学和各种医学领域都变得至关重要.
研究的目的:
- 为了比较两个商业软件程序的性能,用于下一代测序数据的变量调用.
- 评估线粒体DNA的一致性并确定不同分析程序之间的差异.
主要方法:
- 两个商业软件程序Converge Software (CS) 和Torrent Variant Caller被用来进行变量调用.
- 使用这两个程序分析了50个同质种族样本的大量数据集.
主要成果:
- 确定了大约2300种变种,两种程序显示出大约90%的一致性.
- 专门为mtDNA设计的Converge软件 (CS) 对法医应用具有明显的优势.
- 差异归因于不同的线粒体序列记号规则和接近检测极限的小等位基因频率.
结论:
- 研究人员和从业人员必须了解他们选择的mtDNA分析软件的特定特性.
- 制定定制的策略来确定变体是准确结果的必要条件.
- 预计分析程序的持续改进将提高变量调用精度.
相关概念视频
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
12.5K
The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
12.5K
Evolutionary Relationships through Genome Comparisons
5.8K
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...
5.8K
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
Export of Mitochondrial and Chloroplast Genes
3.7K
A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...
3.7K
Next-generation Sequencing
89.9K
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....
89.9K
Modern Molecular Taxonomy
47
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
47

