Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management
Date: 01/02/2024
Jason S. Park, PharmD
Amir Hossein Saeidian, PhD
Leila Youssefian, PhD
Katherine E. Kondratuk, MD
Howard B. Pride, MD
Hassan Vahidnezhad, PhD
Jouni Uitto, MD, PhD
Published: August 09, 2022DOI:https://doi.org/10.1016/j.jaad.2022.08.012
Great advances have been made in the field of heritable skin disorders using next-generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome sequencing, whole-transcriptome sequencing, and disease-targeted multigene panels). When NGS first became available, the cost and lack of access to these technologies were limiting factors; however, with decreasing sequencing costs and the expanding knowledge base of genetic skin diseases, fundamental awareness of NGS has become prudent.
Read full article here: https://www.jaad.org/article/S0190-9622(22)02444-6/fulltext