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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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Following its departure from the European Union, the UK is to implement a fast-track visa program aimed at attracting scientific talent to Britain, according to BBC News.

ScienceInsider reports that researchers in Brazil are concerned that a creationist was chosen to run the agency that oversees graduate study programs there.

The Washington Post reports that researchers are quickly analyzing the coronavirus that has been causing illness and sharing their findings.

In PLOS this week: common variant associated with BMI in Arctic populations, analysis of microRNA markers associated with being born small for gestational age, and more.