A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics.

CONCLUSIONS: NGS technologies have accelerated disease-gene discoveries in dermatology over the last decade. Moreover, the era of NGS has enabled clinicians to split complex Mendelian phenotypes into separate diseases. These genetic data improve diagnostic precision and make feasible accurate prenatal testing and better-targeted translational research. PMID: 32628274 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32628274?dopt=Abstract

Source: The British Journal of Dermatology - July 5, 2020 Category: Dermatology Authors: Chiu FP, Doolan BJ, McGrath JA, Onoufriadis A Tags: Br J Dermatol Source Type: research