Article
A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics.
The British journal of dermatology - 1 Apr 2021
Chiu F P-C, Doolan B J, McGrath J A, Onoufriadis A
Abstract excerpt
BACKGROUND: Discovering the genetic basis of inherited skin diseases is fundamental to improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic linkage and candidate gene approaches led to the molecular characterization of several dozen genodermatoses, but over the past decade the advent of next-generation sequencing (NGS) technologies has accelerated diagnostic discovery and...
Topics
- Genetic Association Studies
- Genetic Counseling
- High-Throughput Nucleotide Sequencing
- Humans
- Mutation
- Phenotype