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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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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...
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Pharmacogenetics and Pharmacogenomics: Overview01:29

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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...
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Genomics02:02

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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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Genome-wide Association Studies-GWAS01:11

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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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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

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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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Updated: Feb 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genomic diagnostics within a medically underserved population: efficacy and implications.

Kevin A Strauss1, Claudia Gonzaga-Jauregui2, Karlla W Brigatti1

  • 1Clinic for Special Children, Strasburg, Pennsylvania, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 21, 2017
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Summary
This summary is machine-generated.

Chromosomal microarray analysis and family whole-exome sequencing (WES) improve rare genetic disorder diagnosis in underserved communities. This integrated approach accelerates discovery and enables targeted screening and prevention strategies.

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Area of Science:

  • Genomics
  • Clinical Genetics
  • Bioinformatics

Background:

  • Undiagnosed genetic disorders pose significant challenges, particularly in endogamous, uninsured populations.
  • Previous biochemical and molecular investigations were insufficient for diagnosis in 79 probands.

Purpose of the Study:

  • To integrate whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical diagnostic workflow.
  • To improve diagnostic yield and identify novel genetic etiologies in an underserved community.

Main Methods:

  • Applied CMA and WES to 79 probands and their families.
  • Vetted variants using rephenotyping, segregation analyses, and population studies.
  • Compared family WES to traditional trio analysis for variant filtering.

Main Results:

  • CMA diagnosed 9% of probands; WES provided a specific genetic diagnosis for 51% of the remaining individuals.
  • Family WES reduced candidate variants from 22±6 to 5±3 per proband compared to trio analysis.
  • Actionable secondary variants were identified in 4.2% of subjects.

Conclusions:

  • CMA and family-based WES are efficient and cost-effective for diagnosing rare genetic disorders.
  • This integrated approach accelerates novel gene discovery and facilitates community-based screening.
  • The findings highlight opportunities for improving genetic healthcare in underserved populations.