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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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 result in visible changes...
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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
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...

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Related Experiment Video

Updated: Jun 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

PhenX: a toolkit for interdisciplinary genetics research.

Patrick J Stover1, William R Harlan, Jane A Hammond

  • 1Cornell University, Ithaca, New York, USA.

Current Opinion in Lipidology
|February 16, 2010
PubMed
Summary
This summary is machine-generated.

Standardized PhenX (Phenotypes and Exposures) measures enhance nutrition, dietary supplements, and cardiovascular disease research. These common data standards facilitate cross-study genetic analyses, increasing statistical power for identifying genotype-phenotype associations.

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A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
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A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

Related Experiment Videos

Last Updated: Jun 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

Area of Science:

  • Genomics
  • Cardiovascular Research
  • Nutritional Science

Background:

  • Genome-wide association studies (GWAS) require data replication for validation.
  • Cross-study comparisons are crucial for understanding disease progression, but often hindered by incomparable data.
  • Lack of standardized phenotypic, environmental, and risk factor data limits direct data combination across studies.

Purpose of the Study:

  • To highlight standard PhenX (Phenotypes and Exposures) measures for nutrition, dietary supplements, and cardiovascular disease research.
  • To demonstrate the utility of PhenX measures in interdisciplinary genetics research.
  • To promote the use of standardized protocols for large-scale genomic studies.

Main Methods:

  • The PhenX Toolkit provides a web-based resource with high-priority, established, low-burden measurement protocols.
  • The toolkit includes 21 research domains, with Nutrition and Dietary Supplements and Cardiovascular Disease being two key areas.
  • Focus on standardized data collection to enable direct data comparison and analysis.

Main Results:

  • PhenX Toolkit offers standardized measures for diverse research domains, including nutrition and cardiovascular health.
  • The toolkit facilitates the collection of comparable data, addressing a critical need in large-scale genomic research.
  • Standardized measures are essential for increasing statistical power in genetic association studies.

Conclusions:

  • PhenX measures provide a common data currency, significantly improving cross-study analysis.
  • Standardization via PhenX greatly enhances the ability to identify associations between genotypes, phenotypes, and exposures.
  • Utilizing PhenX measures is key to advancing genetic research by enabling robust data integration and validation.