Related Experiment Video

Updated: Jun 8, 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

Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis

Mariam Eldesouky1,2, Suhana Shiyas2, Amirul Islam1

  • 1GenomeArc Inc, Mississauga, ON, Canada.

Human Genetics
|February 19, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Clinical geneticsDiagnosticsPathogenicity assessmentPersonalized medicineVariant interpretation

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid for the Detection of Central Nervous System Pathogens
10:08

Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid for the Detection of Central Nervous System Pathogens

Published on: April 17, 2026

Related Experiment Videos

Last Updated: Jun 8, 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

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid for the Detection of Central Nervous System Pathogens
10:08

Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid for the Detection of Central Nervous System Pathogens

Published on: April 17, 2026

Related Concept Videos

Rapid Identification of Pathogens01:25

Rapid Identification of Pathogens

MALDI-TOF MS has transformed clinical microbiology by offering a rapid and reliable method for pathogen identification. The traditional approach to microbial identification typically involves time-consuming culture techniques and biochemical tests, which can delay the initiation of appropriate antimicrobial therapy. MALDI-TOF MS avoids these delays by using characteristic ribosomal protein mass patterns of microbial cells, enabling accurate species-level identification within minutes.Principle...

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

Anxiety as a Moderator Between Autistic/ADHD Traits and Quality of Life in Autistic Children and Adolescents.

Journal of autism and developmental disorders·2026

Short or Long Antibiotic Regimens in Orthopedics.

The New England journal of medicine·2026

Microplastics in Tanguar Haor: abundance, spatial variations, and environmental risks in a Ramsar wetland of Bangladesh.

Water science and technology : a journal of the International Association on Water Pollution Research·2026

Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.

Molecular psychiatry·2026

Unfolding the Pharmacological Potentialities and Phytochemical Characterization of Pajanelia longifolia (Wild) Leaves: A Multidimensional Study via GC-MS/MS, In Vitro, In Vivo, and In Silico Approaches.

Chemistry & biodiversity·2026

ZnO-Functionalized Cotton Textiles with Enhanced Antibacterial Activity, Moisture Management, and Wear Comfort.

ACS omega·2026

Association of apolipoprotein E gene with risk, cognition, and prognosis of epilepsy.

Human genetics·2026

A case-control study on IL-8 gene polymorphisms and serum IL-8 levels in patients with age-related macular degeneration in India.

Human genetics·2026

Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.

Human genetics·2026

Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling.

Human genetics·2026

Polygenic risk scores in human genetics for study design discovery and translation.

Human genetics·2026

Genetic variation in BDNF is associated with opioid use disorder severity.

Human genetics·2026

Application of an intracellular LC-MS/MS assay for the determination of carbovir-triphosphate and remdesivir-triphosphate in peripheral blood mononuclear cells and dried blood spots.

Journal of pharmaceutical and biomedical analysis·2026

Pharmaceutical innovation in advanced nanomedicine for the treatment of hypervirulent and multidrug-resistant Klebsiella pneumoniae infections.

Archives of microbiology·2026

Representative Biobanks as Infrastructure for Equitable Precision Medicine: Implications for Clinical Trials, Artificial Intelligence, and Translational Research.

Biopreservation and biobanking·2026

Model-Informed Precision Dosing of Tacrolimus Initial Dosage Optimization in Membranous Nephropathy Patients.

Drug design, development and therapy·2026

Preparation and in vitro evaluation of amphotericin B-chondroitin sulfate polymer prodrug.

Pharmaceutical development and technology·2026

Global Research Topics and Trends of Myocardial Infarction with Nonobstructive Coronary Arteries: A Bibliometric Analysis.

Research in heart yield and translational 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