関連する実験動画
Updated: Jun 18, 2026

10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
解鎖塩基を用いたヒトゲノム配列決定は,自己組み立てDNAナノアレイ上で読み取れます
Radoje Drmanac1, Andrew B Sparks, Matthew J Callow
1Complete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USA. rdrmanac@completegenomics.com
まとめ
この研究は,正確で,手頃な価格で,スケーラブルな新しいゲノムシーケンシングプラットフォームを提示しています. 大規模な遺伝子研究や疾病研究のために,効率的なヒトゲノム配列決定を可能にします.
科学分野:
- ゲノミクスゲノミクスとは
- 分子生物学は分子生物学である.
- バイオインフォマティックス
背景:
- ゲノムシーケンシングは,人間の病気を理解するために不可欠です.
- 既存のプラットフォームは,効率とコストの課題に直面しています.
- 大規模な遺伝子研究には進歩が必要である.
研究 の 目的:
- 新しいゲノムシーケンシングプラットフォームを記述する.
- 効率,正確性,コストを評価する.
- ヒトゲノム配列決定の有用性を実証するために.
主な方法:
- 組み合わせた探査アンカー結合化学を用いた.
- 自己組み立てDNAナノボールのパターン化されたナノアレイを使用しました.
- 3つのヒトゲノムを配列化し,高いカバー率を達成しました.
主要な成果:
- ゲノム毎の45~87倍カバーを達成しました.
- ゲノムごとに320万から450万の配列変異が特定されました.
- 高い精度が実証されている (100キロベースあたり1つの偽変種).
結論:
- このプラットフォームは,効率的なイメージングと低反応剤消費を提供します.
- リーズナブルなコスト (4,400ドルの消費品) とスケーラビリティは,重要な利点です.
- 大規模な研究で稀な変異の検出のための完全なヒトゲノム配列決定を可能にします.
関連する概念動画
RNA-seq
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 microarray-based...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
Sanger Sequencing
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...
Next-generation Sequencing
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.
Genome Annotation and Assembly
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.
DNA Microarrays
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...
Maxam-Gilbert Sequencing
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...

