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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.

Despite an increasing number of clinical laboratories now offering diagnostic exome sequencing, commercial exome kits still have a number of holes in them and miss important regions even in medically relevant genes.

Caris Life Sciences has launched MI Profile, a next-generation sequencing-based tumor profiling assay. The assay matches potential therapies to patient-specific biomarker information.

NEW YORK (GenomeWeb News) – Researchers have uncovered about two dozen novel copy-number variants strongly linked to autism-spectrum disorders, while also confirming the association of a furth

NEW YORK (GenomeWeb News) – The Children's Hospital of Philadelphia and BGI-Shenzhen said today that they will collaborate to sequence and analyze pediatric brain tumor samples to support the Childhood Brain Tumor Tissue Consortium.

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Howard Hughes Medical Institute will be requiring its researchers to publish their work so it is immediately accessible to the public, ScienceInsider writes.

The Huffington Post reports that Francis Collins, the director of the US National Institutes of Health, has urged Americans to recommit to reason.

About 150 million rapid coronavirus tests purchased by the US federal government are to be distributed to nursing homes, colleges, and the states, according to the New York Times.

In Nature this week: multi-omic analysis of Alzheimer's disease brain samples, de novo assembly of a diploid potato, and more.