Related Experiment Video

Updated: Apr 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

Angela Pyle1, Helen Griffin1, Michael J Keogh1

  • 1Institute of Genetic Medicine, Newcastle University, NE1 3BZ, UK.

Brain : a Journal of Neurology
|April 6, 2015
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

26.6K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K

Related Experiment Videos

Last Updated: Apr 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

26.6K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

17.0K
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...
17.0K

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

Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.

medRxiv : the preprint server for health sciences·2026

Interleukin-10 Autoantibodies and HLA-DRB1*01:03 in Inflammatory Bowel Disease.

The New England journal of medicine·2026

Understanding the Relationship Between Early Elementary Children's ADHD Symptoms and Teachers' Needs Supportive Practices.

Journal of attention disorders·2026

Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.

The New England journal of medicine·2025

Sleep Disturbance in Parkinson's Disease: Consequences for the Brain and Disease Progression - A Narrative Review.

Nature and science of sleep·2025

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

Life science alliance·2025

Tyrosyl-tRNA sequestration triggers tyrosyl-tRNA synthetase-associated peripheral neuropathy.

Brain : a journal of neurology·2026

Progress towards a biotypic biomarker profile for amyotrophic lateral sclerosis-frontotemporal spectrum disorders.

Brain : a journal of neurology·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

Diagnosing multiple sclerosis: implementation and unintended effects of the 2024 McDonald criteria.

Brain : a journal of neurology·2026

Viral mimetic triggers haemorrhagic transformation in a childhood stroke model via neutrophil elastase.

Brain : a journal of neurology·2026

De novo chromatin remodelling variants in sporadic Chiari 1 malformation.

Brain : a journal of neurology·2026

A de novo 1.62 Mb deletion at 2q34 with nonpenetrant neurodevelopmental phenotype at 12 months.

Psychiatric genetics·2026

Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.

Frontiers in genetics·2026

Analysis of Genetic Factors in a Family With Short Stature.

Molecular genetics & genomic medicine·2026

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

American journal of medical genetics. Part A·2026

Value of Knowing the Risk of Developing a Neurodegenerative Disease: A Discrete Choice Experiment.

PharmacoEconomics·2026

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Computers in biology and medicine·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us