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Updated: Jul 22, 2025

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

Published on: February 21, 2015

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在741,075个个体中,对发作相关的拷贝数变异进行全基因组识别和表型表征

Ludovica Montanucci1, David Lewis-Smith2,3,4,5, Ryan L Collins6,7

  • 1Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, USA.

Nature communications
|July 20, 2023
PubMed
概括

副本数变异 (CNVs) 是神经发育障碍的遗传因素. 这项研究确定了与发作相关的25个全基因组显著位置,揭示了新的遗传联系和的潜在临床应用.

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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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