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Yale Center for Mendelian Genomics

Yale University is home to one of four national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, a center operated jointly by Baylor and Johns Hopkins University and the Broad Institute will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US.

The Yale Center for Mendelian Genomics received $12 million under the four-year program. DNA sequencing for this project will be performed on a collaborative basis at no cost to the investigators at the Yale Center for Genome Analysis. The principal investigators for Yale Center are Richard Lifton, M.D., Ph.D., chair and Sterling Professor of Genetics, HHMI investigator; Murat Gunel, M.D., the Nixdorff-German Professor of Neurosurgery and professor of genetics and neurobiology; Shrikant Mane, Ph.D., director of Yale Center for Genome Analysis and of Keck Foundation Biotechnology Resource Laboratory; and Mark Gerstein, Ph.D., the Albert L. Williams Professor of Molecular Biophysics and biochemistry and co- director of the Yale Computational Biology and Informatics.

The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments.

The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with Yale CMG to discover the genetic basis of a Mendelian condition, please contact Shrikant Mane ( for further information.