Evidence for 28 genetic disorders discovered by combining healthcare and research data
A collaboration between X-omics partner Radboudumc, GeneDx and the Wellcome Sanger Institute has discovered 28 genes that can be linked to developmental disorders.
Exome-sequence datasets from the three different institutes were combined into a cohort of 31,058 patients in order to have more statistical power. It became the largest statistical study of these mutations to date.
The approach and results of this work have been published in the scientific journal Nature. See the link below for the full article.
X-omics consortium member Christian Gilissen jointly supervised this great work and several other consortium members were involved.