Next-Generation Diagnostics for Inherited Skin Disorders

作者:Lai Cheong Joey E; McGrath John A*
来源:Journal of Investigative Dermatology, 2011, 131(10): 1971-1973.
DOI:10.1038/jid.2011.253

摘要

Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.

  • 出版日期2011-10