CORDIS Project
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This project investigates conserved non-coding sequences in the human genome to understand their functions and associations with genetic disorders. It aims to identify pathogenic mutations and their effects on human phenotypes.
Comparative genomics revealed that ~5% of the human genome is conserved among mammals.
This fraction is likely functional, and could harbor pathogenic mutations.
We have shown (Nature 2002, Science 2003) that more than half of the constrained fraction of the genome consists of Conserved Non-Coding sequences (CNCs).
Model organisms provided evidence for enhancer activity for a fraction of CNCs; in addition another fraction is part of large non-coding RNAs (lincRNA).
However, the function of the m…
UNIVERSITE DE GENEVE
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