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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Updated: Sep 28, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Big data in systemic sclerosis: Great potential for the future.

Mislav Radic1,2,3, Tracy M Frech1

  • 1Department of Rheumatology, University of Utah, Salt Lake City, UT, USA.

Journal of Scleroderma and Related Disorders
|April 6, 2022
PubMed
Summary
This summary is machine-generated.

Big data, the analysis of complex datasets, offers significant potential for understanding rare diseases like systemic sclerosis. Current utilization in this field is limited, highlighting a need for greater adoption to unlock valuable insights.

Keywords:
Systemic sclerosisbig datamethodologyrare diseasesregistries

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Area of Science:

  • Medical Informatics
  • Data Science in Medicine
  • Rare Disease Research

Background:

  • The term "big data" has gained prominence since 1997, but its application in medicine remains nascent.
  • Big data involves advanced methods for managing and analyzing large, complex datasets beyond traditional capabilities.
  • Systemic sclerosis, a rare disease, presents a critical area for big data integration due to its low prevalence.

Purpose of the Study:

  • To review the existing literature on the application of big data methodologies in systemic sclerosis research.
  • To assess the current utilization and potential of big data in understanding rare diseases.

Main Methods:

  • A comprehensive literature review was conducted.
  • Searched for studies employing big data techniques in the context of systemic sclerosis.

Main Results:

  • The volume of data related to systemic sclerosis has increased substantially in recent years.
  • Despite data growth, big data approaches have not been widely adopted in systemic sclerosis research.
  • A significant gap exists between the available data and its analytical utilization.

Conclusions:

  • Big data offers untapped potential for advancing the understanding and treatment of systemic sclerosis.
  • Increased adoption of big data methods is crucial to fully leverage the growing data resources in rare diseases.
  • Future research should focus on implementing big data strategies for systemic sclerosis to improve patient outcomes.