Yale Center for Mendelian Genomics (YCMG)

From 2012-2021, Yale University was home to one of four national centers created by the National Institutes of Health (NIH) to study the genetics of rare inherited diseases. Researchers at Yale University, University of Washington, the Broad Institute and a center operated jointly by Baylor University and Johns Hopkins University analyzed the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in United States.
The Centers for Mendelian Genomics (CMG) applied 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 expanded our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments.
The CMG provided free exome sequencing and analysis to collaborating investigators for qualified phenotypes.]]>
November 2014: The first study release made available exome sequence data of n=99 subjects, plus SNP array data.April 2015: The second study release made available exome sequence data of n=443 subjects, plus SNP array data.October 2015: The third study release made available exome sequence data of n=1347 subjects, plus vcf and SNP array data.August 2016: This fourth study release makes available exome sequence data of n=1896 subjects, plus vcf and SNP array data.August 2022: The fifth study release makes available exome sequence data for n=8033 subjects, plus vcf data.]]>