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NEW YORK (GenomeWeb) – In the American Journal of Human Genetics, researchers from three consortia report a prominent role for de novo mutations in epileptic encephalopathies.

NEW YORK (GenomeWeb News) – A Children's Hospital of Philadelphia-led team has identified autism spectrum disorder-related changes in three interacting gene sets, spelling out details about the biological processes behind the neuropsychiatric conditions.

This article has been corrected to list all of the genes targeted by the assay. The previous version noted only one of them.

NEW YORK (GenomeWeb News) – The Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence has been created with a $3.25 million gift from the Friedreich's Ataxia Research Alliance (FARA) in partnership with the Hamilton and Finneran families.

The Children's Hospital of Philadelphia has begun offering next-gen sequencing-based HLA typing services internally.

NEW YORK (GenomeWeb News) – An international team of researchers has homed in on a novel gene variant linked to severe asthma in children, as it reported in Nature Genetics yesterday.

The Children's Hospital of Philadelphia has named Toumy Guettouche a senior scientist and director of sequencing within CHOP's Center for Applied Genomics. He reports to Hakon Hakonarson, who heads the center.

The Children's Hospital of Philadelphia has named Toumy Guettouche a senior scientist and director of sequencing within CHOP's Center for Applied Genomics. He reports to Hakon Hakonarson, who heads the center.

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A survey by Nature finds that most researchers want scientific meetings to continue virtually or with a virtual component, even after the pandemic ends.

Bloomberg reports that the B.1.351 SARS-CoV-2 viral variant could prompt the formulation of better vaccines.

Certain blood proteins may be able to distinguish COVID-19 patients who will become critically ill from those who will not, the Atlanta Journal-Constitution reports.

In Genome Biology this week: algorithm to assess regulatory features, approach to integrate multiple single-cell RNA-seq datasets, and more.