Showing 4 ideas for tag "genetic"
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Goal 2: Reduce Human Disease

Determining the significance of variants of unknown significance

Variants of unknown significance (VUS) confound the value of genetic testing. We need to improve our understanding of the clinical significance of VUS so we can more definitively re-classify them as pathologic or benign variants.

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(@kathi0) kudos icon +

Goal 2: Reduce Human Disease

Correlation of genetic modifiers and cardiopulmonary fibrosis/dysfunction in Duchenne

What are the protective genetic modifiers that may be associated with a Duchenne phenotype more resistant to the development of cardiac and pulmonary fibrosis and subsequent pulmonary/cardiac dysfunction? . Are there genetic modifiers that may ameliorate or enhance the onset of cardiac and/or pulmonary dysfunction?

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