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Updated: Jul 1, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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基于三整体外基因组序列测序的基础上,识别出无法解释的儿童的遗传原因

Li Chengyan1, Xue Chupeng1,2, Wang You1

  • 1Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China.

Clinical genetics
|March 12, 2024
PubMed
概括

整体外基组测序 (WES) 在超过50%的未解释的儿童中确定了遗传原因. 早期遗传测试有助于准确诊断,治疗和儿童的遗传咨询.

关键词:
孩子们的孩子们的孩子们的孩子们.是一种.遗传原因 遗传原因三元整体外基因组测序

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Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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