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Updated: Sep 11, 2025

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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COPCNVBD:使用全基因组测序数据进行体质拷贝数变异和断点检测的综合方法

Yaoyao Li, Yajie Yan, Xiguo Yuan

    IEEE transactions on computational biology and bioinformatics
    |August 14, 2025
    PubMed
    概括

    我们开发了COPCNVBD,这是一种改进的异常检测方法,用于复制数变异 (CNV) 和全基因组测序数据中断点识别. 它提供卓越的性能,特别是在低瘤纯度和覆盖率的情况下,有助于基因组分析.

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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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    相关概念视频

    Comparing Copy Number Variations and SNPs02:26

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    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.
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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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    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...
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