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Basic science for the chest physician
Interpretation of genetic variants
  1. Patrick R Sosnay1,2,
  2. Garry R Cutting1,3
  1. 1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
  2. 2Division of Pulmonary & Critical Care Medicine, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA
  3. 3Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA
  1. Correspondence to Garry Cutting, The Johns Hopkins Medical Institutions, 733 North Broadway, MRB 559, Baltimore, MD 21205; USA; gcutting{at}


Sequencing of the human genome and introduction of clinical next-generation sequencing enable discovery of all DNA variants carried by an individual. Variants may be solely responsible for disease, may contribute to disease, or may have no influence on the development of disease. Interpreting the effect of these variants upon disease is a major challenge for medicine. Although the process is still evolving, certain methods are useful in discriminating the effect of variants upon phenotype. These methods have been employed to the greatest extent in Mendelian disorders where deleterious changes in one gene can cause disease. Here, we briefly review the relative merits of these methods, with emphasis on using a comprehensive approach modelled after the analysis of variants that causes cystic fibrosis.

  • Genotype
  • Phenotype
  • Mutation Analysis
  • Genetic Variation
  • Population Genetics
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