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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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

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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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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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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Mutations01:39

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Related Experiment Video

Updated: Feb 20, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Cellular network perturbations by disease-associated variants.

Jared A Sewell1, Juan I Fuxman Bass1

  • 1Department of Biology, Boston University, Boston, MA 02215, USA.

Current Opinion in Systems Biology
|October 24, 2017
PubMed
Summary

Genetic studies identify disease variants but not their mechanisms. This review covers methods to find functional variants and understand how they disrupt cellular networks for better disease intervention.

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Area of Science:

  • Genomics
  • Systems Biology
  • Molecular Biology

Background:

  • Genome-wide association studies (GWAS) identify numerous human disease-associated genomic variants.
  • Identifying the precise mechanisms by which these variants perturb cellular networks remains a significant challenge.
  • Confounding factors include variants within haplotype blocks and the prevalence of noncoding variants.

Purpose of the Study:

  • To review recent advancements in identifying functional variants and gene-variant associations.
  • To examine approaches for studying perturbations in protein-protein and protein-DNA interactions linked to disease.
  • To discuss the impact of these perturbations on cellular networks.

Main Methods:

  • Review of literature on functional variant identification.
  • Analysis of methods for studying gene-variant associations.
  • Examination of techniques for assessing protein interaction networks in disease contexts.

Main Results:

  • Recent advances facilitate the identification of functional variants and their associations with genes.
  • Methods are emerging to study how variants alter protein-protein and protein-DNA interactions.
  • Understanding these molecular perturbations is key to deciphering disease mechanisms.

Conclusions:

  • Bridging the gap between genetic associations and functional mechanisms is crucial for disease intervention.
  • New approaches are improving our ability to link genomic variants to cellular network disruptions.
  • Further research into these mechanisms will enhance our understanding and treatment of genetic diseases.