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Related Concept Videos

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...
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...
Diversity of Antigen Receptors01:28

Diversity of Antigen Receptors

Antigen receptors are essential components of the immune system crucial in defending the body against foreign invaders. These receptors are present on the surface of B and T cells, enabling them to recognize antigens and mount an appropriate immune response.
Before encountering any antigen, lymphocytes express these receptors. On B cells, the antigen receptor is a membrane-bound antibody molecule called BCR; on T cells, it is a T cell receptor or TCR. B and T cell receptors are composed of two...
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...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
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...

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Updated: May 28, 2026

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing
08:59

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing

Published on: January 12, 2021

Exploring Genetic Variations Associated with the Immune Response in Underrepresented Populations.

Ana Laura Hernández-Ledesma1, Evelia Lorena Coss-Navarrete1, Grecia Sevilla-Parra1

  • 11Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Santiago de Querétaro, México;

Annual Review of Biomedical Data Science
|May 26, 2026
PubMed
Summary
This summary is machine-generated.

Genomic studies on immune responses are heavily skewed towards European populations. Increasing ancestry diversity in genetic research is crucial for understanding immune traits across all global populations.

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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

Published on: June 21, 2018

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Last Updated: May 28, 2026

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing
08:59

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing

Published on: January 12, 2021

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:

  • Immunogenomics
  • Genetics
  • Population Health

Background:

  • The immune system's function is influenced by genetic factors, with variants linked to disease susceptibility.
  • Previous genomic studies have predominantly focused on European ancestries, creating a significant knowledge gap.

Purpose of the Study:

  • To evaluate the representation of diverse ancestries in global genome-wide association studies (GWAS) of immune-related traits.
  • To highlight the implications of ancestry imbalance in immunogenomic research.

Main Methods:

  • Systematic identification and characterization of 206 studies investigating immune-related traits from the GWAS Catalog.
  • Analysis of recruitment site data to assess global ancestry representation.

Main Results:

  • The majority of GWAS data for immune traits originates from European cohorts.
  • African, Latin American, Native American, Oceanian, and Asian ancestries are significantly underrepresented.
  • This imbalance limits the discovery of ancestry-specific immune biology and reduces risk prediction accuracy.

Conclusions:

  • The lack of diversity in genomic studies hinders comprehensive understanding of immune genetics.
  • Expanding ancestry representation is vital for equitable clinical translation and equitable health benefits from immunogenomic discoveries.