Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma.

Mohd Hussain ShahNoemi TabaneraSubbaiah Ramasamy KrishnadasManju R PillaiPaola BovolentaPeriasamy Sundaresan

Published in: Molecular genetics & genomic medicine (2017)

Altogether, our data further support the implication of SIX6 variants as POAG risk factors and implicates SIX6 haploinsufficiency in POAG pathogenesis.

Keyphrases

risk factors
copy number
electronic health record
transcription factor
machine learning
dna methylation
data analysis