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Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.

Jonas SchmidtSandro BerghausFrithjof BlessingHolger HerbeckJosef BlessingPeter SchierackStefan RödigerDirk RoggenbuckFolker Wenzel
Published in: PloS one (2022)
These results demonstrated the great potential of current Nanopore sequencing for application in clinical diagnostics, at least for SNP genotyping by amplicon sequencing. Other more complex applications, especially structural variant identification, require further in-depth clinical validation.
Keyphrases
  • genome wide
  • single cell
  • high throughput
  • single molecule
  • genetic diversity
  • copy number
  • gene expression
  • early onset
  • optical coherence tomography
  • risk assessment
  • high density