Collaboration effort for discovery of genes responsible for Mendelian diseases

Posted by & filed under Exome sequencing.

Exome and whole genome sequencing by next generation sequencing have shown tremendous potential for discovery of genes underlying Mendelian disorders. To accelerate these discoveries, the National Institutes of Health has established three Centers for Mendelian Genomics (CMGs): the Center
for Mendelian Genomics at the University of Washington; the Center for Mendelian Genomics at Yale University; and the Baylor–Johns Hopkins Center for Mendelian Genomics at Baylor College of Medicine and Johns Hopkins University. The CMGs will collaborate with the global genetics community to discover genes for Mendelian phenotypes which have yet to be uncovered. Further information are available in the July 2012 issue of the Am J Med Genet part A (158 issue 7 pages 1523–1525) and at

Nicola Brunetti-Pierri, MD

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