Related Experiment Video

Updated: Nov 20, 2025

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

11.2K

Genetic Testing Prevalence, Guidelines, and Pitfalls in Large, University-Based Medical Systems

Ashley E Neiweem, Seenu M Hariprasad, Thomas A Ciulla

    Ophthalmic Surgery, Lasers & Imaging Retina
    |January 20, 2021
    PubMed
    Summary

    No abstract available in PubMed .

    More Related Videos

    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

    10.4K
    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
    09:30

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

    Published on: August 17, 2022

    3.3K

    Related Experiment Videos

    Last Updated: Nov 20, 2025

    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

    11.2K
    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

    10.4K
    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
    09:30

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

    Published on: August 17, 2022

    3.3K

    Related Concept Videos

    Genetic Screens02:46

    Genetic Screens

    5.3K
    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...
    5.3K
    Sensitivity, Specificity, and Predicted Value01:13

    Sensitivity, Specificity, and Predicted Value

    957
    In healthcare diagnostics, laboratory tests play a crucial role in identifying and diagnosing a wide range of medical conditions. However, interpreting test results is not always straightforward. An abnormal test result does not always confirm the presence of a disease, just as a normal result does not guarantee its absence. To assess the reliability of these diagnostic tools, healthcare practitioners rely on two key statistical indicators: sensitivity and specificity.
    Sensitivity is the...
    957

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

    Modeling the relation between intraocular pressure and human trabecular meshwork fluid-mechanical properties.

    Mathematical biosciences and engineering : MBE·2026

    Gene therapy and cost-effectiveness analysis: Current issues and future research.

    Med (New York, N.Y.)·2026

    A theoretical model for the influence of age, race and ethnicity on retinal mitochondria dysfunction.

    Journal of theoretical biology·2026

    Gene-Agnostic Therapeutic Strategies for Inherited Retinal Diseases: Neuroprotection and Immunomodulation.

    Genes·2026

    Beyond the injection: delivery systems reshaping retinal disease management.

    Expert opinion on pharmacotherapy·2025

    Autoimmune neuro-ophthalmic disorders: pathophysiologic mechanisms and targeted biologic therapies.

    Expert opinion on biological therapy·2025

    Observation Without Vitrectomy in Penetrating Open-Globe Injury With Retinal Strike Sites in Young Patients.

    Ophthalmic surgery, lasers & imaging retina·2026

    Statin Use and the Risk of Proliferative Vitreoretinopathy in Eyes Undergoing Rhegmatogenous Retinal Detachment Repair.

    Ophthalmic surgery, lasers & imaging retina·2026

    Retinal and Choroidal Vascular Alterations on Swept-Source Optical Coherence Tomography Angiography in Adults With a History of Retinopathy of Prematurity.

    Ophthalmic surgery, lasers & imaging retina·2026

    Signal Strength Variation Explains Apparent Exercise-associated Vessel Density Change on Optical Coherence Tomography Angiography in Heart Failure.

    Ophthalmic surgery, lasers & imaging retina·2026

    Late Retinal Detachments in Retinopathy of Prematurity.

    Ophthalmic surgery, lasers & imaging retina·2026

    Bilateral Combined Retinal Vasculitis With Multiple Cotton Wool Spot-Like Lesions.

    Ophthalmic surgery, lasers & imaging retina·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