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Related Concept Videos

Genomics02:02

Genomics

39.5K
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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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Related Experiment Video

Updated: Dec 30, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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Metabolomics in genetic testing.

Jacopo Troisi1, Pierpaolo Cavallo2, Angelo Colucci3

  • 1Department of Medicine, Surgery and Dentistry, "Scuola Medica Salernitana", University of Salerno, Baronissi, Italy; Theoreo srl, Montecorvino Pugliano, Italy; European Biomedical Research Institute of Salerno (EBRIS), Salerno, Italy.

Advances in Clinical Chemistry
|January 19, 2020
PubMed
Summary
This summary is machine-generated.

Metabolomics offers a snapshot of biochemical activity, reflecting phenotype and aiding disease diagnosis. This technique, including targeted and untargeted studies, complements genetic sequencing for understanding various conditions.

Keywords:
CancerChromosomal anomaliesDiabetesGenetic testingGenome-wide association studyGlucocerebrosidaseInborn errors of metabolismMetabolomicsNon-alcoholic fatty liver diseaseParkinson disease

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Area of Science:

  • Biochemistry
  • Genetics
  • Systems Biology

Background:

  • Metabolomics provides a real-time biochemical readout of biological systems.
  • Metabolite concentrations are influenced by genetics, environment, disease, diet, and drugs.
  • Metabolomics signatures reflect an individual's phenotype.

Purpose of the Study:

  • To highlight the utility of metabolomics in understanding biological states.
  • To discuss the applications of metabolomics in disease diagnosis, prognosis, and treatment monitoring.
  • To compare targeted and untargeted metabolomics approaches.

Main Methods:

  • Analysis of small molecules in biofluids and tissues.
  • Utilizing both targeted (predefined metabolites) and untargeted (comprehensive metabolite profiling) strategies.
  • Integration with genetic sequencing data.

Main Results:

  • Metabolomics signatures are valuable for disease diagnosis and prognosis.
  • Both targeted and untargeted metabolomics have proven effective for monogenic and multigenic conditions.
  • Metabolomics serves as a cost-effective complement to genetic sequencing.

Conclusions:

  • Metabolomics is a powerful tool for deciphering biochemical activities and phenotypes.
  • The complementary nature of metabolomics and genetics enhances the understanding of complex diseases.
  • Metabolomics offers a robust and accessible approach for biological research and clinical applications.