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Kabuki syndrome

At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.

Researchers from the US and Japan have used exome sequencing to find a gene involved in a rare genetic condition called Kabuki syndrome.

A man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.

The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.

Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.

In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.