相关实验视频
Updated: Jun 9, 2025
10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
22.7K
一项关于染色体重组的全国长期测序研究揭示了隐藏的复杂性
Jesper Eisfeldt1,2,3, Adam Ameur4,5, Felix Lenner4,5
1Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.
Genome research
|October 29, 2024
概括
长读基因组测序 (lrGS) 有效地检测出大多数结构变异 (SV) 用于罕见疾病诊断. 这项研究表明,HiFi Revio lrGS可以在核酸分辨率上精确地确定复杂的染色体重组,为全国范围的临床使用铺平了道路.
科学领域:
- 基因组学就是基因组学.
- 临床诊断 临床诊断 临床诊断
- 生物信息学是一种生物信息学.
背景情况:
- 临床遗传分析需要全面检测结构变异 (SV),包括复杂的染色体重组.
- 短读测序往往难以准确地解决断点结点和衍生染色体结构.
- 长读测序技术为临床环境中详细的SV分析提供了一个有希望的替代方案.
研究的目的:
- 评估HiFi Revio长读基因组测序 (lrGS) 在罕见疾病诊断中对SVs进行全国数字化核型鉴定的实用性.
- 建立一个国家管道和变体数据库,用于使用lrGS进行 SV 分析.
- 评估irrgs在检测和解决各种类型的染色体重组方面的能力.
主要方法:
- 从13个家庭的16个样本,先前识别的SVs使用HiFi Revio lrGS进行了分析.
- 开发了一个国家生物信息学管道,用于变体调用和过.
- 进行了de novo组合以表征染色体重组.
主要成果:
- 在已知的16个SV中,有14个被IRGS检测到.
- 通过核酸分辨率绘制了13个SV;通过读取深度确定了一个复杂的重新排列.
- 平均读取长度为8.3-18.8kb,覆盖率>20x,使得重新排列的新组装和表征成为可能.
结论:
- HiFi Revio lrGS是分析罕见疾病诊断中的染色体重排的一个有价值的工具.
- 这项研究证明了全国范围的lrGS管道用于SV检测的可行性.
- 提出了一项五年计划,以扩大 lrGS 在瑞典的罕见疾病诊断.
相关概念视频
02:53Conservative Site-specific Recombination and Phase Variation
5.9K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
The recognition sites for Cre recombinase called LoxP...
5.9K
01:30Crossing Over
4.2K
Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
4.2K
03:00Next-generation Sequencing
87.7K
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....
87.7K