PAUSATE Study: Prevalence and appropriateness of the use of antimicrobials in Spanish hospitals.

Objective: To determine the prevalence and appropriateness of antimicrobial use in Spanish hospitals through a pharmacist-led systematic cross-sectional review.

Method: A nationwide multicenter cross-sectional study was conducted on  10% of the patients admitted to the participating hospitals on one day in April  2021. Hospital participation was voluntary, and the population was randomly  selected.

A 22.5 kb deletion in causing Cabezas syndrome identified using CNV approach from WES data.

Detecting clinical grade CNV based on WES is being improved in the NGS era.