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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
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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.
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Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
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Glycosylation, the most common post-translational modification for proteins, serves diverse functions. Adding sugars to proteins makes the proteins more resistant to proteolytic digestion. Glycosylated proteins can act as markers and receptors to promote cell-cell adhesion. Additionally, they have many essential quality control functions in the cell, such as correct protein folding and facilitating transport of misfolded proteins to the cytosol, which can be degraded.
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Gustation, or the sense of taste, is intrinsically linked to the anatomical structures located on the tongue. This organ's surface, along with the entirety of the oral cavity, is adorned with stratified squamous epithelium. Evident on the tongue are elevated structures known as papillae (singular = papilla), which house the mechanisms for the transduction of gustatory stimuli. Four distinct types of papillae exist, each identified by their unique morphological attributes: the circumvallate,...
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Updated: Aug 17, 2025

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
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A comprehensive review on knowledge graphs for complex diseases.

Yang Yang1,2, Yuwei Lu1,2, Wenying Yan3

  • 1School of Computer Science & Technology, Soochow University, Suzhou 215000, China.

Briefings in Bioinformatics
|December 18, 2022
PubMed
Summary
This summary is machine-generated.

Knowledge graphs (KGs) are revolutionizing complex disease research by enhancing diagnosis and treatment. This review details KG applications, methods, and future directions in biomedicine.

Keywords:
biomedicinecomplex diseaseentity extractionknowledge graphsrelation extraction

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Area of Science:

  • Biomedical informatics
  • Computational biology
  • Clinical informatics

Background:

  • Knowledge graphs (KGs) are increasingly utilized for storing entity relationships and enabling advanced reasoning.
  • In biomedicine, KGs offer a promising approach for efficient and flexible diagnosis and treatment of complex diseases.

Conclusions:

  • Knowledge graphs represent a significant advancement in managing and reasoning over biomedical data for complex diseases.
  • The review highlights existing gaps and opportunities, proposing future research directions for KG development in disease diagnosis and treatment.