相关实验视频
Updated: Sep 15, 2025

10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
23.1K
可扩展的长读纳米孔HPV16基于AMPlicon的全基因组测序
Maina K Titus1, David Giesbrecht1, Cliff I Oduor1
1Department of Pathology and Laboratory Medicine, Warren Alpert Medical School, Brown University, Providence, RI, USA.
medRxiv : the preprint server for health sciences
|July 15, 2025
概括
这项研究提出了一种新的,负担得起的全基因组测序方法,用于人类乳头瘤病毒16 (HPV16) 追踪撒哈拉以南非洲的遗传多样性和癌症风险.
科学领域:
- 基因组学就是基因组学.
- 病毒学 病毒学
- 流行病学 流行病学
背景情况:
- 人类乳头瘤病毒16 (HPV16) 是宫癌 (CC) 的关键驱动因素.
- 在HPV16的遗传变异影响CC风险.
- 撒哈拉以南非洲地区面临着HPV相关疾病的高负担.
研究的目的:
- 为HPV16开发一种负担得起的,便携式的基于安普利康的长读全基因组测序 (WGS) 方法.
- 为了研究撒哈拉以南非洲的HPV16遗传多样性.
- 建立一个强大的管道HPV16监测和诊断在低资源的设置.
主要方法:
- 使用牛津纳米孔技术 (ONT) 针对HPV16的WGS.
- 在临床样本和对照细胞系中应用了基于安普利康的测序.
- 雇佣 Clair3 和 PEPPER-Margin DeepVariant用于变体调用和家族遗传学分析.
主要成果:
- 产生了完整的HPV16基因组,覆盖率很高 (中位数为5,899-15,279×).
- 准确识别了所有四个HPV16系 (A-D) 和子系.
- 捕获了全面的基因组变异,包括血统信息性的SNP.
结论:
- 开发的WGS方法对于HPV16分析是准确的,负担得起的和便携的.
- 这种方法适用于在资源有限的地区加强HPV16监测,诊断和流行病学.
相关概念视频
Next-generation Sequencing
92.7K
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....
92.7K
Sanger Sequencing
757.5K
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...
757.5K
RNA-seq
10.4K
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...
10.4K
Maxam-Gilbert Sequencing
11.5K
In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
Challenges of the Maxam-Gilbert Method
The...
11.5K

