Related Experiment Video

Updated: May 17, 2026

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications

Susan M Downes, Emily Packham, Treena Cranston

    Archives of Ophthalmology (Chicago, Ill. : 1960)
    |November 13, 2012
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
    09:22

    Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

    Published on: February 28, 2021

    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

    Related Experiment Videos

    Last Updated: May 17, 2026

    Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
    10:41

    Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

    Published on: March 29, 2017

    Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
    09:22

    Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

    Published on: February 28, 2021

    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

    Related Concept Videos

    Pharmacogenomics: Identification of New Drug Targets01:29

    Pharmacogenomics: Identification of New Drug Targets

    Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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

    Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.

    Genes·2026

    OCT and Autofluorescence Phenotypic Features in Autosomal Dominant RHO-Associated Retinitis Pigmentosa Variants.

    Vision (Basel, Switzerland)·2026

    Geographic atrophy in age-related macular degeneration: phenotypic characterisation for clinical trial consideration.

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

    Automated cone photoreceptor detection using synthetic data and deep learning in confocal adaptive optics scanning laser ophthalmoscope images.

    Scientific reports·2026

    Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.

    Genes·2025

    Multiple endocrine neoplasia type 1 syndrome due to novel Alu insertion.

    Cancer genetics·2025

    Integrating deep learning and pangenomics to recover missing heritability from wild structural variations.

    BMC genomics·2026

    Genomic analysis of an Arctic marine Tenacibaculum sp. SM2510 reveals its genetic potential for glutathione utilization.

    Marine genomics·2026

    Lactiplantibacillus plantarum: Systems Biology of a Versatile Microbe.

    Probiotics and antimicrobial proteins·2026

    Proteogenomics in human populations.

    Nature reviews. Genetics·2026

    Whole Exome Sequencing Unveils Novel Pathogenic Variants in an Iranian Cohort with Retinal Dystrophies: Implications for Genetic Diagnosis and Counseling.

    Molecular and cellular probes·2026

    Genetic determinants of metabolic-inflammatory dysregulation and machine learning prediction of COVID-19.

    Frontiers in cellular and infection microbiology·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