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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.

NEW YORK (GenomeWeb News) – Biobase today said that it has inked an agreement with the University of Southern California and the Children's Hospital of Philadelphia to exclusively market and distribute their Annovar genomic annotation tool.

NEW YORK (GenomeWeb News) – A study in Nature Genetics suggests alterations to two chromatin-remodeling genes — ARID1A and ARID1B — are linked to particularly poor neuroblastoma outcomes.

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Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.

Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.

A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.

In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.