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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.

An international effort using SNP genotyping chips to study the genetics of cholesterol and other blood lipids has turned up 21 new gene variants associated with lipid levels.

NEW YORK (GenomeWeb News) – The Children's Hospital of Philadelphia and BGI will work together on a sequencing-based project to discover genetic variants involved in 1,000 rare diseases, the partners said today.

This story was originally posted on May 17.
Lineagen plans to launch an upgraded version of its FirstStepDx test for autism spectrum disorders.

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NPR reports that researchers have developed chimeric embryos as part of work toward growing human organs in animals for organ transplants.

According to the Washington Post, the Biden Administration is set to make changes to federal restrictions on fetal tissue research.

In Science this week: approach to isolated trace DNA from archaic humans from sediments, and more.

Texas Monthly looks into the DNA Zoo being collected by Baylor College of Medicine researchers.