Related Experiment Video

Updated: Jun 8, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.2K

Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023

Sophie Allen1, Alice Garrett2,3, Lara Muffley4,5

  • 1Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. sophie.allen@icr.ac.uk.

European Journal of Human Genetics : EJHG
|March 3, 2024
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.0K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

Related Experiment Videos

Last Updated: Jun 8, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.0K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

Related Concept Videos

In vitro Mutagenesis01:16

In vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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

Accelerating equitable cancer genomics and precision oncology in health care and research: a Lancet Oncology Commission.

The Lancet. Oncology·2026

Balancing benefits, costs, and harms: policy implications of expanding cancer susceptibility testing from genetics clinics to the general population.

The Lancet. Oncology·2026

Recommendations for return of secondary genomic findings in observational cohort studies.

Nature genetics·2026

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

American journal of human genetics·2026

A step-wise, deterministic and fatal mouse model of myeloid neoplasm with spontaneous acquisition of patient-relevant RTK-RAS mutations.

Oncogene·2026

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson-Gilford Progeria Syndrome.

Aging cell·2026

Insertion or deletion variants in TAF15 exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohort.

European journal of human genetics : EJHG·2026

Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.

European journal of human genetics : EJHG·2026

Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.

European journal of human genetics : EJHG·2026

Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.

European journal of human genetics : EJHG·2026

Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia.

European journal of human genetics : EJHG·2026

digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening.

European journal of human genetics : EJHG·2026

EXPRESS: Practical efficiency of coupling targeted temperature management to cerebral temperature versus systemic temperature in febrile brain-injured patients. The Brain-TTM study: a randomized controlled pathophysiology trial.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism·2026

A new Dawn: Advances and innovation in heart transplantation part I - cardiac magnetic resonance imaging in heart transplantation.

International journal of cardiology·2026

Once yearly cell-based therapy for sustained and dose-tunable delivery of monoclonal antibodies.

Science advances·2026

Biosimilars in diabetic macular edema: Promise, progress, and pitfalls.

Indian journal of ophthalmology·2026

An Unexpected Association of a Novel MYOF Variant with Generalized Myopathy and HAE-nl-C1-INH.

Iranian journal of allergy, asthma, and immunology·2026

Allopurinol for Marfan Aortopathy: Pharmacogenomic Safety and Sex-Stratified Trial Design Warrant Consideration.

Cardiovascular drugs and therapy·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