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.

Researchers have found that the i-motif shape of DNA previously observed in the lab also exists in human cells, and that it may serve a purpose.

In PNAS this week: a genomic, transcriptomic, and metabolomic analysis of the tea plant, Arabidopsis thaliana's adaptations to specific local environments, and more.

In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.