The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.

Nadine JalkhSandra CorbaniZahraa HaidarNadine HamdanElias FarahJoelle Abou GhochRouba GhosnNabiha SalemAli FawazClaudia Djambas KhayatMariam RajabChebl MouraniAdib MoukarzelSimon RassiBernard GerbakaHicham MansourMalek BaassiriRawane DagherDavid BreichAndré MégarbanéJean Pierre DesvignesValérie DelagueCybel MehawejEliane Chouery

Published in: BMC medical genomics (2019)

The present article reports the detailed results of both analysis and pinpoints the contribution of WES data reanalysis to an efficient genetic diagnosis. Lessons learned from WES reanalysis and interpretation are also shared.

Keyphrases

genome wide
copy number
electronic health record
gene expression
dna methylation
data analysis
deep learning