使用HiFi测序对高度相似的相似基因进行全基因组范围的分析
Xiao Chen1, Daniel Baker2, Egor Dolzhenko2
1PacBio, Menlo Park, CA, USA. xchen@pacificbiosciences.com.
Nature communications
|March 8, 2025
概括
一种新的方法 - - 抛基因 - - 在细分重复中准确地分阶段高度相似的基因. 这促进了基因变异调用,并使以前无法获得的基因的研究成为可能.
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:
- 调用细分重复的变异因高序列同质性而具有挑战性.
- 非常相似的平行基因使准确的基因分析变得复杂.
研究的目的:
- 开发和应用Paraphase,一种基于HiFi的方法,用于在细分重复中解决高度相似的基因.
- 分析遗传多样性,并在这些复杂的基因组区域内识别新型变异.
主要方法:
- 开发了Paraphase,这是一个生物信息学工具,用于分阶段对比基因的单元类型.
- 在人类基因组中的160个长段重复区域应用了帕拉法.
- 分析了来自五个祖先群体和36个三元组的数据.
主要成果:
- 帕拉法成功地在细分重复中解决了非常相似的基因.
- 在祖先种群中识别出高度可变的副本数量.
- 发现了23个因基因转换和不平等交叉而具有较低多样性的等同组.
- 检测到7个新的单核酸变体和4个新的基因转换事件.
结论:
- 帕拉法为解决基因对应物提供了一个强大的框架.
- 能够对医学上相关的基因和以前无法获得的基因进行准确的基因测试.
- 在复杂的基因组区域促进全人口遗传研究.
相关概念视频
Ribosome Profiling
3.4K
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...
3.4K
Gene Families
8.7K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.7K
Gene Duplication and Divergence
6.0K
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
6.0K
DNA Microarrays
17.1K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
17.1K
Genomic DNA in Prokaryotes
43.3K
The genome of most prokaryotic organisms consists of double-stranded DNA organized into one circular chromosome in a region of cytoplasm called the nucleoid. The chromosome is tightly wound, or supercoiled, for efficient storage. Prokaryotes also contain other circular pieces of DNA called plasmids. These plasmids are smaller than the chromosome and often carry genes that confer adaptive functions, such as antibiotic resistance.
Genomic Diversity in Bacteria
Although bacterial genomes are much...
Genomic Diversity in Bacteria
Although bacterial genomes are much...
43.3K
RNA-seq
9.8K
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...
9.8K


