Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

ABSTRACT:

Background

Genome diagnostics is considered gold standard diagnostics for epidermolysis bullosa (EB), a phenotypically and genetically heterogeneous group of rare disorders characterized by blistering and wounding of mucocutaneous tissues. EB is caused by pathogenic variants in genes encoding proteins of the dermo-epidermal junction. Accurate genetic diagnosis of EB is crucial for prognostication, counselling and precision-medicine. Genome diagnostics for EB started in 1991 with the introduction of Sanger sequencing (SS), analysing one gene at a time. In 2013, SS was superseded by next-generation sequencing (NGS), that allow for high-throughput sequencing of multiple genes in parallel. Several studies have shown a beneficial role for NGS in EB diagnostics, but its true benefit has

SUBMITTER: Baardman R 

PROVIDER: S-EPMC11664470 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature