In a newly published paper, CHOP researchers described a method for rebuilding patient histories en masse to create gene-specific "footprints" in clinical records.
A new paper outlines an upcoming effort to trace tumor development and trajectory in time and space using single-cell genetics and other genomic methods.
Nearly 3,500 patients were referred to the Roberts Individualized Medical Genetics Center for exome sequencing or other testing during the clinical program's first four years.
CHOP researchers uncovered CNV associations with four disease categories: autoimmune, cardio-metabolic, oncologic, and neurological/psychiatric diseases.
Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.
The Genomics Research and Innovation Network (GRIN) is a federated platform from three major pediatric hospitals to assist in research and treatment of rare diseases.
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.
