相关实验视频

Updated: Mar 2, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

在1052名智力障碍患者的全外体测序数据中进行基因分析和报告

Xin Pan1, Guanhua Qian1, Li Liu1

  • 1Department of Gynecology and Obstetrics, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, 401120, China.

Journal of molecular medicine (Berlin, Germany)
|March 1, 2026
PubMed
概括

整体外体测序 (WES) 与副本数变异 (CNV) 分析相结合,在1052名智力残疾 (ID) 个体中实现了43.54%的诊断率. 这种综合方法显著改善了神经发育障碍的遗传诊断.

关键词:
副本数量变化的变化诊断的收益率是一个问题.这是一个偶然的发现.智力障碍 智力障碍是一种智力障碍.整个外体组的测序.

更多相关视频

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

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...
16.0K