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The Centers for Mendelian Genomics (CMG) use genome-wide sequencing and other genomic approaches to discover the genetic basis underlying as many Mendelian traits as possible, and accelerate discoveries by disseminating the obtained knowledge and effective approaches, reaching out to individual investigators, and coordinating with other rare disease programs worldwide.
The currently funded CMG are: the 苹果ios加速器, the Broad Institute CMG, the 苹果网络加速器下载, and the Yale University CMG. Please direct inquiries about collaborations directly to the centers.
The CMGs contribute to the overall field of Mendelian genetics which has been responsible for many disease gene discoveries. For more information see the detailed Mendelian Traits by the Numbers report , list of phenotypes studied, and disease genes identified, by the CMGs and a listing of CMG presentations.
Learn more about the NHGRI Centers for Mendelian Genetics Program.
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- Genetic diagnosis in the fetus. 2023 Jul
- Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. 2023 Jun
- Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. 苹果网络加速器下载
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Data Release and Sharing
Mechanisms of Data Release and Sharing
New goals from International Rare Diseases Research Consortium:
