Article
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Experimental dermatology - 1 Dec 2013
Takeichi Takuya, Nanda Arti, Liu Lu, Salam Amr, Campbell Patrick, Fong Kenneth, Akiyama Masashi, Ozoemena Linda, Stone Kristina L, Al-Ajmi Hejab, Simpson Michael A, McGrath John A
Abstract excerpt
Individuals with inherited skin diseases often pose one of the most difficult diagnostic challenges in dermatology. The hunt for the underlying molecular pathology may involve candidate gene screening or linkage analysis, which is usually determined by the initial history, the physical findings and laboratory tests. Recent technical advances in DNA sequencing, however, are shifting the diagnostic paradigm....
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