CORDIS Project
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The DETECT-SV-RD project aims to enhance the diagnosis of rare genomic diseases by identifying structural variations and short tandem repeats in patient genomes using advanced sequencing technologies. By developing a new computational workflow and collaborating with diagnostic departments, the project seeks to improve…
Rare Genomic Diseases (RGDs) affect >200 million individuals globally, however less than half of patients receive a molecular diagnosis, forcing millions into year-long diagnostic odysseys, and limiting the possibilities for personalized care.
New studies suggest that forms of DNA mutation affecting many base pairs of at once, so-called 'Structural Variations' (SVs) and 'Short Tandem Repeats' (STRs) may play a dominant role in the biological underpinnings of many undiagnosed RGDs.
The DETECT-SV-…
STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
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