Close Menu

CHOP

NantHealth, CHOP, and their collaborators intend to release genomic, transcriptomic, and proteomic data from 1,600 patients in the next six months

Called the Roberts Collaborative for Genetics and Individualized Medicine, the program was established with a $25 million gift from Comcast CEO Brian Roberts and members of his family.

Scientists introduced an indel to a promoter region to mimic a benign, naturally-occurring mutation that activated fetal hemoglobin production.

The recommendations resulted from two meetings that brought together physicians, lab workers, researchers, genetic counselors, and patient families from the US and Canada.

Cavatica is a project of CHOP's Center for Data Driven Discovery in Biomedicine and is part of its commitment to the Precision Medicine Initiative.

Using genomic data for pediatric low-grade gliomas, researchers uncovered a MYB-QKI fusion that appears to drive angiocentric glioma development.

The Center for Data Driven Discovery in Biomedicine is a joint project of CHOP Research Institute and CHOP's Department of Biomedical Health and Informatics. 

The results showed that syndromic forms of autism are more likely when children have alterations of genes in the mGluR pathway.

Using genotyping data, the Children's Hospital of Philadelphia-led team found high heritability across pediatric-onset autoimmune diseases.

Through a meta-analysis of 10 pediatric-onset autoimmune diseases, Children's Hospital of Philadelphia researchers found 22 loci shared among the conditions.

Pages

Springer Nature announces €9,500 fee to make papers open-access in Nature and its family of journals.

Librarians have concluded that notebooks that belonged to Charles Darwin that were thought to have been lost were actually likely stolen, CNN reports.

An early SARS-CoV-2 alteration may have enabled it to spread more easily, according to the New York Times.

In PNAS this week: ultrarare variants contribute to aging-related hearing loss, telomeres of cells infected with herpesvirus, and more.