相关实验视频

Updated: Jan 13, 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

9.0K

临床外体序列测序:一种遗传视网膜 Dystrophies 的遗传诊断方法

Pilar Barberán-Martínez1, Mar Balanzá1, Belén García-Bohórquez2

  • 1Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain; Programa de Doctorat en Biotecnologia, Polytechnic University of Valencia (UPV), Valencia, Spain.

The Journal of molecular diagnostics : JMD
|January 7, 2026
PubMed
概括

临床外基因组测序确定了68.53%的遗传视网膜发育不良家族的遗传原因,揭示了这些罕见视力障碍的新型变异和扩展基因关联.

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

26.3K
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

34.6K

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...
5.6K