Jove
Visualize
Contact Us
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

Related Experiment Videos

Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of

C Mattocks1, P Tarpey, M Bobrow

  • 1Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge, UK. cjm59@cam.ac.uk

Human Mutation
|November 3, 2000
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Examining the Relationship Between Community Resources and Early Disability Identification: Variation by Child Race or Ethnicity.

Prevention science : the official journal of the Society for Prevention Research·2025
Same author

Prevention of Post-Traumatic Osteoarthritis in the Military: Relevance of OPTIKNEE and Osteoarthritis Action Alliance recommendations.

BMJ military health·2024
Same author

Report of Deaths in the City of Buffalo for the Month of October, 1861.

Buffalo medical and surgical journal·2023
Same author

Report of Deaths in the City of Buffalo for the Month of December, 1861.

Buffalo medical and surgical journal·2023
Same author

Discerning a smile - The intricacies of analysis of post-neck dissection asymmetry.

American journal of otolaryngology·2021
Same author

Targeted lung cancer screening selects individuals at high risk of cardiovascular disease.

Lung cancer (Amsterdam, Netherlands)·2018

We developed Comparative Sequence Analysis (CSA) to simplify mutation detection. This method achieved 100% sensitivity and specificity in identifying Von Hippel-Lindau gene mutations.

Area of Science:

  • Genetics and Molecular Biology
  • Bioinformatics and Computational Biology

Background:

  • Direct sequencing is a standard method for confirming mutations identified by other tests.
  • Current sequencing analysis can be complex and time-consuming, limiting its use as an initial screening tool.

Purpose of the Study:

  • To develop a simplified method for analyzing sequencing data.
  • To enable sequencing analysis to be used as a primary method for mutation detection.

Main Methods:

  • Developed Comparative Sequence Analysis (CSA) by splitting sequence data into electrophoretograms.
  • Utilized a size standard to overlay traces from different individuals for visual comparison.
  • Applied CSA in a blind study to analyze 576 samples for mutations in the Von Hippel-Lindau (VHL) gene.

Related Experiment Videos

Main Results:

  • CSA allows for simple and rapid visual analysis of sequencing data.
  • The method demonstrated 100% sensitivity and specificity in identifying all 78 known VHL gene mutations in the tested samples.

Conclusions:

  • Comparative Sequence Analysis (CSA) effectively simplifies sequencing data analysis.
  • CSA is a highly sensitive and specific method suitable for initial mutation screening, including for the Von Hippel-Lindau tumor suppressor gene.