関連する実験動画
Updated: Sep 14, 2025
10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
23.1K
ロングリードシーケンシングに基づく1,019人の多様なヒトの構造的変化
Siegfried Schloissnig1, Samarendra Pani2,3, Jana Ebler2,3
1Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.
Nature
|July 23, 2025
まとめ
1,019人のロングリードシーケンシングで 10万以上のゲノム構造変異 (SV) と 30万のタンデムリピートが明らかになった. 遺伝的多様性や病気の理解を深めるため,様々な集団におけるSVの特徴を明らかにした.
科学分野:
- ゲノミクス
- 人口遺伝学
- 分子生物学
背景:
- ゲノム構造変異 (SV) は遺伝的多様性や病気に不可欠ですが,大きな集団では特徴が不足しています.
- 短読配列を用いた以前の研究は,SVを包括的に特定し特徴づけるのに限界がある.
研究 の 目的:
- 多様なヒト集団におけるSVの特徴化のためのロングリードシーケンシングを用いて,中間範囲のゲノム資源を構築する.
- 大量の配列解析SVと変数のタンデムリピート (VNTR) を特定し,ゲノタイプ化する.
主な方法:
- 1000ゲノムプロジェクトにおける26の集団から1,019の個体に対して長読配列を解析した.
- 構造変異を特定し特徴づけるために統合された線形およびグラフゲノム分析.
- ゲノタイプによる多変異性タンドームの繰り返し数
主要な成果:
- 配列解析で解明された 10万以上のバイアレル構造変異を発見した
- ゲノタイプ300,000 マルチアレル変数のタンデム繰り返し
- 集団特有のパターンを明らかにし,SV形成におけるレトロトランポジションとホモロジー媒介プロセスの役割を明らかにした.
結論:
- 長期読解によるシーケンシングは,短期読解によるアプローチと比較して,集団規模の研究におけるSVの特徴付けにおいて,著しい進歩をもたらしている.
- 生成されたオープンアクセスリソースは,ゲノム構造の変異の理解を高め,臨床アプリケーションの変異を優先させるのに役立ちます.
関連する概念動画
02:54Evolutionary Relationships through Genome Comparisons
6.2K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.2K
02:26Comparing Copy Number Variations and SNPs
17.9K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.9K
02:51Multi-species Conserved Sequences
4.3K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.3K
03:00Next-generation Sequencing
92.6K
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....
92.6K
03:21RNA-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
01:05Single Nucleotide Polymorphisms-SNPs
15.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.9K