Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genetic Screens

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...

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

Genome-wide Association Studies-GWAS

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...

Neural Regulation

Neural Regulation

Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Characterization of a novel homozygous CTSD variant causing adult-onset neuronal ceroid lipofuscinosis type 10: a case report.

Journal of neurology·2026

Same author

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Movement disorders : official journal of the Movement Disorder Society·2026

Same author

Minimal residual disease assessment through ctDNA facilitates tailored immunotherapy in MSI-high, NTRK1-fusion pancreatic adenocarcinoma.

The oncologist·2026

Same author

Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

JCI insight·2026

Same author

BRIDGE pilot study: a bilateral regulatory investigation of data governance and exchange.

NPJ digital medicine·2026

Same author

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.

NAR genomics and bioinformatics·2026

Search research articles

Related Experiment Video

Updated: May 22, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Identification and Classification of Position-specific GABA_A Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Genetic testing in neurological diseases.

Saskia Biskup¹, Thomas Gasser

¹Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, DZNE-German Center for Neurodegenerative Diseases, Hoppe-Seyler Str 3, 72076 Tübingen, Germany.

Journal of Neurology

|May 24, 2012

Summary

Advances in molecular diagnostics and genetic testing offer valuable clinical insights. These tests are crucial for patient knowledge and efficient diagnosis, even without immediate treatment options.

More Related Videos

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

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

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

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

Published on: June 15, 2011

Related Experiment Videos

Last Updated: May 22, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Identification and Classification of Position-specific GABA_A Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

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

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

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

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

Published on: June 15, 2011

Area of Science:

Genomics
Clinical Diagnostics
Medical Technology

Background:

Rapid advancements in DNA sequencing technologies are increasing the availability of molecular tests for numerous diseases.
The integration of molecular diagnostics into clinical practice presents both opportunities and challenges.

Purpose of the Study:

To examine the practical utility and clinical applicability of molecular diagnostic testing.
To highlight the importance of genetic testing beyond immediate therapeutic implications.

Main Methods:

Review of current sequencing technologies and their application in disease diagnosis.
Analysis of the benefits of molecular testing in a clinical setting.

Main Results:

Molecular diagnostic tests provide significant information for physicians and patients.
Genetic testing is valuable for patient autonomy ('right to know') and streamlining diagnostic processes, irrespective of direct treatment outcomes.

Conclusions:

Molecular diagnosis is becoming increasingly vital in healthcare due to parallel gene sequencing capabilities.
The expanding role of molecular diagnostics necessitates understanding its practical benefits in clinical decision-making.