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 ShahPublished 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.