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Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

Jochen KammermeierSuzanne DruryChela T JamesRobert DziubakLouise OcakaMamoun ElawadPhilip BealesNicholas LenchHolm H UhligChiara BacchelliNeil Shah
Published in: Journal of medical genetics (2014)
Excluding or confirming known VEOIBD genotypes should be considered early in the disease course in all cases of therapy-refractory VEOIBD, as it can have a direct impact on patient management. To combine both described NGS technologies would compensate for the limitations of WES for disease-specific application while offering the opportunity for novel gene discovery in the research setting.
Keyphrases
  • early onset
  • late onset
  • genome wide
  • copy number
  • young adults
  • genome wide identification
  • case report
  • high throughput
  • single cell
  • cancer therapy
  • stem cells
  • drug delivery
  • bone marrow
  • genome wide analysis