A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Lisenka E L M VissersKirsten J M van NimwegenJolanda H SchievingErik-Jan KamsteegTjitske KleefstraHelger G YntemaRolph PfundtGert Jan van der WiltGert Jan van der WiltHan G BrunnerSimone van der BurgJanneke GruttersJoris A VeltmanMichèl A A P Willemsen

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)

Our data support such a use of WES in pediatric neurology for disorders of presumed genetic origin.Genet Med advance online publication 23 March 2017.

Keyphrases

copy number
single cell
social media
genome wide
health information
big data
machine learning
young adults
dna methylation
data analysis
childhood cancer