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

Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem.

A Isaksson1, U Landegren, A C Syvänen

  • 1Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, Sweden.

European Journal of Human Genetics : EJHG
|April 11, 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

Reframing AI for Rare Disease Recognition.

Research square·2026
Same author

Validation, Deployment, and Real-World Implementation of a Modular Toolbox for Alzheimer's Disease Detection and Dementia Risk Reduction: The AD-RIDDLE Project.

The journal of prevention of Alzheimer's disease·2024
Same author

Leveraging Generative AI to Prioritize Drug Repurposing Candidates: Validating Identified Candidates for Alzheimer's Disease in Real-World Clinical Datasets.

Research square·2023
Same author

Global, Regional, and National Levels and Trends in Burden of Oral Conditions from 1990 to 2017: A Systematic Analysis for the Global Burden of Disease 2017 Study.

Journal of dental research·2020
Same author

[No evidence for naloxone-induced "enhancement" of receptor sensitivity and long-term use of opioids in chronic nontumor pain].

Schmerz (Berlin, Germany)·2019
Same author

[Pain inhibition by opioids-new concepts].

Schmerz (Berlin, Germany)·2019

Single nucleotide polymorphisms (SNPs), a common human genetic variation, hold promise for advancing biological understanding and medicine. Optimal utilization of SNPs requires multidisciplinary collaboration to address current challenges in discovery, scoring, and application.

Area of Science:

  • Genetics and Genomics
  • Human Variation
  • Biotechnology

Background:

  • Single nucleotide polymorphisms (SNPs) represent the most common form of human genetic variation.
  • Significant potential exists for SNPs to enhance biological understanding and advance medical applications.
  • Controversy surrounds the optimal methods for leveraging SNPs to achieve these goals.

Framework:

  • The second international SNP meeting convened experts from academia and industry.
  • Discussions covered SNP discovery, scoring technologies, population genetics, disease association studies, pharmacogenomics, bioinformatics, and legal aspects.
  • A multidisciplinary approach was emphasized for effective SNP utilization.

Implementation:

  • SNP discovery is accelerating, with initiatives like The SNP Consortium aiming to release 300,000 public SNPs.

Related Experiment Videos

  • Advancements in SNP scoring technologies are reducing time and cost, but high-throughput methods for population studies are still needed.
  • Extensive analysis of SNPs in diverse populations highlights the critical role of population history in identifying genetic risk factors.

    • Implications:

    • The feasibility of large-scale SNP-based complex disease analysis remains debated.
    • Integrating expertise across various scientific fields is crucial for maximizing the benefits of SNPs.
    • Future research should focus on overcoming current technological and methodological limitations for widespread SNP application in medicine and biology.