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Related Concept Videos

Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
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Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis

Type 2 diabetes mellitus develops gradually and is often asymptomatic in early stages.Clinical ManifestationsWhen symptoms appear, they include fatigue, blurred vision, pruritus, delayed wound healing, and recurrent infections, particularly candidal infections. Peripheral neuropathy may present as numbness or tingling in the extremities. Classic hyperglycemia symptoms—polyuria, polydipsia, and polyphagia—are less common. Most patients are overweight and frequently have associated hypertension...

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Related Experiment Video

Updated: May 15, 2026

Cloud-Based Phrase Mining and Analysis of User-Defined Phrase-Category Association in Biomedical Publications
09:20

Cloud-Based Phrase Mining and Analysis of User-Defined Phrase-Category Association in Biomedical Publications

Published on: February 23, 2019

Mining the human phenome using semantic web technologies: a case study for Type 2 Diabetes.

Jyotishman Pathak1, Richard C Kiefer, Suzette J Bielinski

  • 1Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

AMIA ... Annual Symposium Proceedings. AMIA Symposium
|January 11, 2013
PubMed
Summary
This summary is machine-generated.

This study uses Semantic Web technologies to link electronic health records and genetic data, enabling efficient discovery of gene-disease associations, like those for Type 2 Diabetes.

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Area of Science:

  • Bioinformatics
  • Genomics
  • Health Informatics

Background:

  • Genome-wide association studies (GWAS) are crucial for understanding genetic contributions to disease.
  • Limited sample sizes due to high genotyping and phenotyping costs historically hindered GWAS.
  • Biobanks collecting biospecimens and electronic health records (EHRs) offer opportunities for large-scale genotype-phenotype discovery.

Purpose of the Study:

  • To explore the application of Semantic Web technologies for mining phenotype data in biobanks.
  • To demonstrate how Resource Description Framework (RDF) can represent EHR data for genetic association studies.
  • To enable federated querying for identifying genotype-phenotype associations, specifically for Type 2 Diabetes.

Main Methods:

  • Utilized Semantic Web technologies, including RDF, to represent clinical data from the Mayo Clinic Biobank.
  • Implemented federated querying via standardized Web protocols to access and analyze linked clinical and genotype data.
  • Focused on identifying subjects with Type 2 Diabetes for gene-disease association discovery.

Main Results:

  • Successfully represented EHR diagnoses and procedure data using RDF.
  • Demonstrated the feasibility of federated querying across distributed data sources.
  • Facilitated the identification of potential gene-disease associations by linking genotyped subjects with specific phenotypes.

Conclusions:

  • Semantic Web technologies offer a powerful approach for integrating and querying large-scale biobank data.
  • Web-scale data federation techniques can effectively execute complex queries for genetic association studies.
  • This methodology enhances the potential for novel genotype-phenotype discovery and hypothesis generation.