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A review of next-generation genetic testing for the dermatologist. Pediatr Dermatol 2013 Jul-Aug;30(4):401-8 PMID: 23278715

Pubmed ID

23278715

Abstract

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 KL

Authors

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin
Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin




Scopus

2-s2.0-84879844678   5 Citations

MESH terms used to index this publication - Major topics in bold

Child
Dermatology
Genetic Testing
Humans
Pediatrics
Skin Diseases
jenkins-FCD Prod-300 626508253d14e4184314fb9f66322a03a5906796