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Updated: May 15, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

1つのヒト細胞の単一ヌクレオチドおよび複製数変異の全ゲノム検出

Chenghang Zong1, Sijia Lu, Alec R Chapman

  • 1Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.

Science (New York, N.Y.)
|December 22, 2012
PubMed
まとめ

マルチプルアニリングとループベースの増幅サイクル (MALBAC) と呼ばれる新しい方法は,単細胞の全ゲノム配列化を改善します. このテクニックは増幅バイアスを克服し,高ゲノムカバーとコピー数変異や単一ヌクレオチド変異のような遺伝的変異の正確な検出を可能にします.

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

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Characterizing Mutational Load and Clonal Composition of Human Blood07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

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関連する概念動画

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
DNA Microarrays02:34

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...
Karyotyping01:17

Karyotyping

Overview