RT Journal Article
SR Electronic
T1 Interpretation of genetic variants
JF Thorax
JO Thorax
FD BMJ Publishing Group Ltd and British Thoracic Society
SP 295
OP 297
DO 10.1136/thoraxjnl-2013-204903
VO 69
IS 3
A1 Patrick R Sosnay
A1 Garry R Cutting
YR 2014
UL http://thorax.bmj.com/content/69/3/295.abstract
AB 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.