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Updated: Jun 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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新的前沿:一个全外基因组测序的案例,具有多个胎儿异常

Jenny Y Mei1, Lila Dayani2, Lawrence D Platt1,3

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, CA, USA.

Case reports in perinatal medicine
|March 5, 2025
PubMed
概括

整体外基因组测序 (WES) 在标准测试失败时确定了多个胎儿异常的遗传原因. 这种基因诊断有助于父母和未来的怀孕计划.

关键词:
胎儿的异常情况.遗传咨询 遗传咨询 遗传咨询超声波超声波是指超声波的使用.整体外基因组测序的测序

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相关概念视频

Genome-wide Association Studies-GWAS01:11

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.
GWAS does not require the identification of the target gene involved in...