相关实验视频
Updated: Jun 25, 2025
10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
22.8K
长读序列能够解决障碍吗?下一代无法解决这些障碍吗? 一个审查审查
Nikolett Szakállas1, Barbara K Barták2, Gábor Valcz2,3
1Department of Biological Physics, Faculty of Science, Eötvös Loránd University, Budapest, Hungary.
Pathology oncology research : POR
|May 31, 2024
概括
长读测序为了解复杂疾病提供了优越的遗传变异识别. 这项技术为核酸序列的改变提供了更深入的见解,有助于发现新的药物标.
科学领域:
- 基因组学和生物信息学
- 分子生物学分子生物学
- 药物基因组学 药物基因组学
背景情况:
- 遗传疾病表现出大规模的异质性,需要对核酸序列变化的详细分析.
- 测序技术的进步对于生成可解释的基因组数据至关重要.
- 了解遗传异常是开发向治疗的关键.
研究的目的:
- 审查测序技术的历史发展.
- 为了比较短读和长读序列的好处和局限性.
- 突出生物信息学方法和长读测序的当前应用.
主要方法:
- 对短读和长读测序方法的比较分析.
- 历史测序技术及其演变的审查.
- 检查用于分析测序数据的生物信息学工具.
主要成果:
- 与短读测序相比,长读测序提供了更准确的变体识别和基因组组装.
- 较长的读取长度可以更好地了解可能危及健康的遗传异常.
- 核酸改变研究的重大进展是由长期阅读的技术驱动的.
结论:
- 长读测序代表了遗传疾病研究的重大进步.
- 这项技术有助于更深入地了解用于药物发现的基因组数据.
- 进一步探索生物信息学和其应用是有必要的.
相关概念视频
03:00Next-generation Sequencing
88.6K
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....
88.6K
03:21RNA-seq
9.9K
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...
9.9K
03:36Genome Annotation and Assembly
18.8K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
18.8K
01:57Sanger Sequencing
754.0K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
754.0K
02:24Ribosome Profiling
3.5K
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
3.5K