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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Human Virome01:26

Human Virome

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The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible...
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Genetic Variation01:25

Genetic Variation

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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,...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

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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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Viral Mutations00:36

Viral Mutations

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Updated: Apr 3, 2026

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

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Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity.

Xiao P Peng1,2,3, John M Greally1,2,3

  • 11Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore, Bronx, New York, USA;

Annual Review of Genomics and Human Genetics
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PubMed
Summary
This summary is machine-generated.

Interpreting noncoding genetic variants is crucial for diagnosing diseases. This review proposes a framework to analyze these variants, improving patient care for unsolved cases.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Next-generation sequencing (NGS) advances disease understanding and personalized medicine.
  • Clinical guidelines generate vast genomic data, yet noncoding variants remain largely uninterpretable.
  • Interpreting noncoding variants is essential for improving diagnostic yields.

Purpose of the Study:

  • To review mechanisms of noncoding variant-induced human disease.
  • To propose a framework for identifying and characterizing disease-relevant noncoding variants.
  • To integrate insights from various genomic fields to address the challenge of noncoding variant interpretation.

Main Methods:

  • Literature review of known and emerging mechanisms of noncoding variant pathogenicity.
  • Integration of population genetics, evolutionary genomics, and functional genomics data.
  • Application of in silico strategies for variant analysis.
  • Focus on regulatory impact on gene expression, particularly through the lens of immunity.

Main Results:

  • Noncoding variants represent a significant portion of sequencing data with unknown disease relevance.
  • Emerging mechanisms highlight the regulatory impact of noncoding variants on gene expression.
  • A framework is proposed to systematically identify and characterize these variants.

Conclusions:

  • Understanding noncoding variants is key to unlocking the full potential of genomic medicine.
  • The proposed framework offers a systematic approach to assess variants in the "black box" of the genome.
  • Improved interpretation of noncoding variants will enhance diagnostic capabilities and patient management for unsolved genetic diseases.