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A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.

Anne W LuckyNeha DagaonkarKaren LammersAmmar HusamiDiane KissellKejian Zhang
Published in: Pediatric dermatology (2018)
EBSEQ is a sensitive, relatively rapid, minimally invasive, comprehensive genetic assay for the diagnosis of epidermolysis bullosa.
Keyphrases
  • minimally invasive
  • high throughput
  • copy number
  • gene expression
  • robot assisted