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Updated: Jan 16, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing

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基于自然语言处理的软件的应用和临床实用性评估对于副本编号变体的解释

Songchang Chen^1,2, Chang Liu³, Xiaorui Luan⁴

¹Institute of Reproduction and Development, Shanghai Key Laboratory of Reproduction and Development, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China. ChensongC@hotmail.com.

Journal of translational medicine

|October 4, 2025

概括

CNVisi软件准确地解释副本数变异 (CNVs),大大提高了遗传学专家的效率. 这种NLP工具具有很高的临床实用性,减少了解释负担,提高了诊断速度.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.
医学遗传学医学遗传学

背景情况:

手动解释副本数变体 (CNVs) 是耗时且劳动密集的.
像CNVisi这样的自然语言处理 (NLP) 软件可以减轻这种负担.
需要对CNVisi的临床实用性进行彻底评估.

研究的目的:

评估CNVisi的性能和临床实用性,以解释拷贝数变异.
与手动解释相比,评估CNVisi的效率和准确性.
确定CNVisi分类与专家遗传学家审查的一致性.

主要方法:

最初使用1000个手动分类的CNVs来评估CNVisi的性能.
从2443个下一代测序 (NGS) 样本中评估了5861个CNV的临床效用.
在经过专家审查后,分析了分类一致性,重点是CNV满足报告规则.

主要成果:

在初步性能评估中,CNVisi获得了97.7%的准确率,在临床实用性评估中获得了99.6%的准确率.
在CNV分类中,CNVisi和遗传专家之间观察到很高的一致性 (98.6%).
CNVisi准确有效地解释了96.9%的CNV-seq样本,超过了以前的工具.

结论:

CNVisi软件在拷贝数变异解释方面表现出卓越的临床实用性.
应用CNVisi显著减少了遗传学专家的工作量.
在临床环境中,CNVisi提高了CNV解释的整体效率和准确性.

关键词:

准确度准确度准确度准确度准确度人工智能的人工智能是人工智能.复制号码的变体是复制号码的变体.自然语言处理自然语言处理.病原性分类病原性分类

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相关概念视频

Comparing Copy Number Variations and SNPs

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-SNPs

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,...