Tag: whole genome sequencing (WGS)

1. Whole exome sequencing (WES) provided diagnosis for a subset of patients with chronic kidney disease (CKD). 2. Identification of certain mutations, via WES, changed the clinical management of CKD patients. Evidence Rating Level: 2 (Good) Study Rundown: Over the past 10 years, we have seen significant advances in genetics technology that...
1. In a cohort of children under the age of 12 months admitted to the intensive care unit (ICU) without a clear diagnosis, rapid, targeted genetic testing revealed a diagnosis in about one-third of patients. 2. Genetic diagnoses significantly impacted the care of those children identified as having a genetic...