Children's Hospital Los Angeles
The liquid biopsy assay uses low-pass whole-genome sequencing to screen for copy number alterations in blood, cerebral spinal fluid, and aqueous humor samples.
Researchers showed that methylation patterns on cell-free DNA in the eye can differentiate retinoblastomas into more or less aggressive subtypes.
CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
Children's Hospital Los Angeles used a SARS-CoV-2 sequencing panel to determine if patients had become infected from the same source as healthcare workers.
Pediatric Cancer Researchers, Clinicians Look to Enhance Molecular Data Collection, Distribution
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.