相关实验视频

Updated: Jan 17, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

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在超低覆盖率的单细胞DNA测序数据中,对子兆基段的绝对副本数感知CNV调用

Solrun Kolbeinsdottir1, Vasilios Zachariadis1, Christian Sommerauer1

  • 1Department of Oncology-Pathology Karolinska Institutet, Stockholm 171 77, Sweden.

Nucleic acids research
|September 19, 2025
PubMed
概括

一种新的计算方法,ASCENT,增强了单细胞的超低覆盖范围全基因组测序 (WGS). 升高精确地描述副本数量的变化,并检测异构性损失 (LOH) 没有批量引用,揭示了传统方法遗漏的子克隆.

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相关概念视频

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%...
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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,...
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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. 
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