A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Ben JohnsonRachel DoakDavid AllsupEmma AstwoodGillian EvansCharlotte GrimleyBeki JamesBethan MyersSimone StokleyJecko ThachilJonathan WildeMike WilliamsMike MakrisGillian C LoweYvonne WallisMartina E DalyNeil V Morgannull null

Published in: Research and practice in thrombosis and haemostasis (2018)

Although requiring further clarification of the impact of the genetic variations, the application of an IT-specific next generation sequencing panel is an viable method of pre-screening patients for variants in known IT-causing genes prior to WES. With an added benefit of distinguishing IT from idiopathic thrombocytopenic purpura (ITP) and the potential to identify variants in genes known to have a predisposition to hematological malignancies, it could become a critical step in improving patient clinical management.

Keyphrases

copy number
genome wide
end stage renal disease
dna methylation
ejection fraction
prognostic factors
peritoneal dialysis
bioinformatics analysis
gene expression
transcription factor