CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy.

Cybel Mehawej Joy El Maalouf Mohamad Abdelkhalik Peter Mahfouz Eliane Chouery Andre Megarbane

Published in: Genes (2024)

This case highlights the added value of CNV analysis from ES data in the genetic diagnosis of patients. It also underscores the challenges encountered in announcing unsolicited incidental findings to the family.

Keyphrases

end stage renal disease
chronic kidney disease
ejection fraction
peritoneal dialysis
big data
deep learning
patient reported outcomes