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Updated: Jan 9, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

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Published on: February 21, 2015

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在儿科中,对致病性拷贝数变异的基因型-表型分析

Hao Zheng1, JiaLi Dai1, Miao Xiong1

  • 1Department of Neurology, Children's Hospital of Chongqing Medical University, China; National Clinical Research Center for Child Health and Disorders, China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China; Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing 400014, China.

Epilepsy & behavior : E&B
|December 4, 2025
PubMed
概括

致病拷贝数变异 (CNVs) 是儿童的重要原因,影响大脑发育. 识别这些遗传变异至关重要,特别是当出现并发症时.

关键词:
副本数量变化的变化是一种病.微切除是指微切除的情况.微复制是微复制的全基因组低覆盖度的测序.

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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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