Related Experiment Video
Updated: Sep 2, 2025
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic Testing in Neurology: What Every Neurologist Must Know
Manish Salunkhe1, Ayush Agarwal1, Mohd Faruq2
1Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Abstract:
Approximately 80% genes have an active expression in the brain and 40% of known genetic disorders affect the central nervous system. Revolutionary techniques like next-genome sequencing have solved the problem of the diagnostic odyssey in neurological genetic diseases. As several studies have shown the cost-effectiveness of next-genome sequencing compared to the older tests available in our diagnostic armamentarium, it becomes imperative to know about these genetic mutations and the tests available to diagnose them. We have tried to explain the basic concepts of genetics, the selection of available tests and their interpretation for neurophysicians.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
08:22A 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
Related Concept Videos
02:46Genetic Screens
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...
01:28Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...