A review of next-generation genetic testing for the dermatologist. Pediatr Dermatol 2013;30(4):401-8
Date
01/03/2013Pubmed ID
23278715DOI
10.1111/pde.12062Scopus ID
2-s2.0-84879844678 (requires institutional sign-in at Scopus site) 9 CitationsAbstract
Dermatologists have been placed in a prime position to make new genetic discoveries. Tissue is easily obtained from the skin or mucosa for the study of germline and somatic mosaic disorders. This, along with the recent development of next-generation sequencing, makes dermatology an exciting field with essentially endless possibilities for discovering genes responsible for disease, better understanding complex molecular pathways, and eventually developing targeted therapies. To take advantage of this great opportunity, a basic understanding of the advances in genetic testing is vital. Herein we give an overview of next-generation sequencing, including some of the applications it may be used for. We also review various study designs for genetic discovery, each of their benefits and downfalls, and how they may be applied to the study of dermatologic disease.
Author List
Kwon EK, Basel D, Siegel D, Martin KLAuthor
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildDermatology
Genetic Testing
Humans
Pediatrics
Skin Diseases