Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

Courtney E FrenchIsabelle DelonHelen DollingAlba Sanchis-JuanOlga ShamardinaKaryn MégyStephen AbbsTopun AustinSarah BowdinRicardo G BrancoHelen Firthnull nullnull nullDavid H RowitchF Lucy Raymond

Published in: Intensive care medicine (2019)

The use of WGS in intensively ill children is acceptable and trio analysis facilitates diagnoses. A gene agnostic approach was effective in identifying an underlying genetic condition, with phenotypes and symptomatology being primarily used for data interpretation rather than gene selection. WGS analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.

Keyphrases

genome wide
young adults
copy number
gene expression
risk assessment
machine learning
climate change
artificial intelligence
transcription factor