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Related Concept Videos

Genomics02:02

Genomics

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Related Experiment Video

Updated: Jul 19, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Functional genomics and its implications for molecular medicine.

Ulrich Broeckel1, Karen Maresso, Subra Kugathasan

  • 1Department of Medicine, Medical College of Wisconsin, and Department of Pediatrics, Children's Hospital of Wisconsin, 9000 W. Wisconsin Avenue, Milwaukee, WI 53226, USA. broeckel@mcw.edu

Pediatric Clinics of North America
|October 10, 2006
PubMed
Summary

Advancements in genetics and genomics enable molecular-level disease understanding. This facilitates personalized medicine by linking genetic makeup to disease risk and treatment strategies.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Last Updated: Jul 19, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genomics and Molecular Biology
  • Medical Genetics
  • Personalized Medicine

Background:

  • Technological progress in genetics and genomics offers new ways to understand common diseases at a molecular level.
  • The human genome sequence and knowledge of DNA variations, coupled with RNA and protein analysis, are key to future disease characterization.
  • Understanding gene function and the roles of DNA, RNA, and proteins is crucial for developing novel diagnostic and therapeutic approaches.

Purpose of the Study:

  • To explore how technological advancements in genetics and genomics can identify the molecular basis of common diseases.
  • To highlight the potential of molecular-level disease characterization for future medical applications.
  • To emphasize the role of individual genetic signatures in disease risk, prognosis, and the development of personalized medicine.

Main Methods:

  • Leveraging human genome sequence data.
  • Analyzing common DNA variations.
  • Performing molecular analyses at the RNA expression and protein levels.
  • Investigating gene function and the roles of DNA, RNA, and proteins in disease.

Main Results:

  • Diseases may be characterized at the molecular level in the future.
  • Novel diagnostic tools and treatments can be developed by describing gene function and molecular roles in disease.
  • Individual genetic signatures will influence disease risk and prognosis.

Conclusions:

  • Genomic and molecular data are pivotal for advancing disease understanding and treatment.
  • Personalized medicine, based on an individual's unique genetic profile, is the future of healthcare.
  • Integrating genetic, genomic, and molecular information will revolutionize diagnostics and therapeutics.