Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Htoo A WaiJenny LordMatthew LyonAdam GunningHugh KellyPenelope CibinEleanor G SeabyKerry Spiers-FitzgeraldJed LyeSian EllardN Simon ThomasDavid J BunyanAndrew G L DouglasDiana Barallenull null

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Splicing analysis of blood RNA identifies diagnostically important splicing abnormalities and clarifies functional effects of a significant proportion of VUSs. Bioinformatic predictions are improving but still make significant errors. RNA analysis should therefore be routinely considered in genetic disease diagnostics.

Keyphrases

genome wide
emergency department
patient safety
nucleic acid
dna methylation
gene expression