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The study, which is still ongoing, also provided support for a separate Phase 2/3 trial of a targeted treatment for the neurodevelopmental disorder.

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.

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In Science this week: metagenomic-based technique for determining protein structure, and more.

An academic laments the rise of narcissism in the sciences, the Guardian reports.

Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.

The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.