相关实验视频

Updated: Jun 23, 2026

Mouse Eye Enucleation for Remote High-throughput Phenotyping
05:30

Mouse Eye Enucleation for Remote High-throughput Phenotyping

Published on: November 19, 2011

20.3K

针对遗传性眼病的优化,广泛的NGS小组在波兰诊断1000名患者

Ewa Matczyńska1,2, Marta Beć-Gajowniczek1, Larysa Sivitskaya1

  • 1Genomed S.A., 02-971 Warsaw, Poland.

Biomedicines
|June 27, 2024
PubMed
概括

这项研究使用下一代测序 (NGS) 确定了波兰遗传性视网膜变 (IRD) 和视神经病变 (ION) 的遗传原因. 广泛的NGS小组实现了64.3%的诊断收益率,揭示了常见和新型变异.

关键词:
中欧和东欧地区.遗传性视神经病变是一种遗传性视神经病变.遗传性视网膜疾病 遗传性视网膜疾病多基因NGS的IRD面板多基因NGS遗传性视神经病变小组视网膜缩症 视网膜缩症 视网膜缩症

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

33.7K
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

3.1K

相关概念视频

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...