Studying how genetic variants affect mechanism in biological systems

Essays Biochem. 2018 Oct 26;62(4):575-582. doi: 10.1042/EBC20180021. Print 2018 Oct 26.


Genetic variants are currently a major component of system-wide investigations into biological function or disease. Approaches to select variants (often out of thousands of candidates) that are responsible for a particular phenomenon have many clinical applications and can help illuminate differences between individuals. Selecting meaningful variants is greatly aided by integration with information about molecular mechanism, whether known from protein structures or interactions or biological pathways. In this review we discuss the nature of genetic variants, and recent studies highlighting what is currently known about the relationship between genetic variation, biomolecular function, and disease.

Keywords: Genomics; Interaction networks; Molecular Mechanism; Pathways.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Variation*
  • Humans
  • Mutation
  • Nucleotides / genetics
  • Protein Folding
  • Systems Biology*


  • Nucleotides