Whole exome sequencing identifies novel predisposing genes in neural tube defects.

Philippe LemayPatrizia de MarcoMonica TraversoElisa MerelloAlexandre Dionne-LaporteDan SpiegelmanÉdouard HenrionOusmane DialloFrançois AudibertJacques L MichaudArmando CamaGuy A RouleauZoha KibarValeria Capra

Published in: Molecular genetics & genomic medicine (2018)

These data provide some key insights into the pathogenic mechanisms of human NTD and demonstrate the power of next-generation sequencing in deciphering the genetics of this complex trait.

Keyphrases

genome wide
endothelial cells
copy number
dna methylation
electronic health record
induced pluripotent stem cells
big data
pluripotent stem cells
gene expression
machine learning
circulating tumor
data analysis
transcription factor
deep learning
artificial intelligence