相关实验视频

Updated: Jul 5, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.0K

有针对性的长读序列测定确定了X相关性原性糖尿病insipidus的因果结构变异

Lukáš Strych1, Monika Černá2, Markéta Hejnalová2

  • 1Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic. Lukas.Strych@lfp.cuni.cz.

BMC medical genomics
|January 23, 2024
PubMed
概括

有针对性的长读测序发现了一种新的7.5kb AVPR2基因缺失,导致X相关性原性糖尿病无味症 (NDI). 这种方法精确地诊断了这种情况,并扩大了已知的NDI引起的结构变异的范围.

关键词:
删除 AVPR2 的删除.断点分析是一种断点分析.长读序列的测序方式原性糖尿病的发病时间.这就是PacBio.

更多相关视频

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

33.8K
In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

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...
13.4K