Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.

Whitney L Wooderchak-DonahueJamie McDonaldAndrew FarrellGulsen AkayMatt VelinderPeter JohnsonChad VanSant-WebbRebecca MargrafEric BriggsKevin J WhiteheadJennifer ThomsonAngela E LinReed E PyeritzGabor MarthPinar Bayrak-Toydemir

Published in: Journal of medical genetics (2018)

Despite the difficulty of interpreting deep intronic variants, our study highlights the importance of non-coding regions in the disease mechanism of HHT, particularly the CT-rich hotspot region of ACVRL1intron 9. The addition of this region to HHT molecular diagnostic testing algorithms will improve clinical sensitivity.

Keyphrases

machine learning
computed tomography
deep learning
single cell
contrast enhanced
dual energy
gene expression
single molecule
dna methylation