针对性测序和代组装近乎完整的基因组
Hasindu Gamaarachchi1,2, Igor Stevanovski1, Jillian M Hammond1
1Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Nature communications
|November 24, 2025
概括
科内托是一种新的选择性纳米孔测序策略,提高了基因组组装质量和人类和脊椎动物的可负担性. 这种方法可以实现高度完整的双倍体人类基因组组合,即使是从唾液等具有挑战性的样本.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
背景情况:
- 长读序列 (LRS) 和组装算法已经推进了基因组组装.
- 仍然需要改善可访问性,可负担性和质量.
研究的目的:
- 介绍使用可编程选择性纳米孔测序的策略"Cornetto".
- 提高基因组组装质量,完整性,并简化过程.
- 从具有挑战性的样本中实现高质量的双倍体人类基因组组合.
主要方法:
- 利用可编程的选择性纳米孔测序来集中LRS数据生成.
- 应用Cornetto策略对人类和非人类脊椎动物的基因组.
- 仅使用纳米孔LRS数据生成双体人体基因组组件.
主要成果:
- 通过提高质量和降低成本,实现了高度完整的双倍体人类基因组组合.
- 从具有挑战性的样本类型,包括人类唾液,成功组装了基因组.
- 获得了临床相关的重复位置的准确组合,有助于FSHD和MUC1-ADTKD的遗传诊断.
结论:
- 科尔内托显著提高了基因组组装效率和质量.
- 该战略提供了一种具有成本效益的方法,用于生成高质量的双胞胎人类基因组.
- 科尔内托为复杂疾病的遗传诊断提供了一种可行的方法.
相关概念视频
Genome Annotation and Assembly
20.5K
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.
20.5K
Next-generation Sequencing
97.6K
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....
97.6K
Sanger Sequencing
772.9K
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...
772.9K
Genomics
39.6K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.6K
RNA-seq
11.7K
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...
11.7K
Modern Molecular Taxonomy
554
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...
554


