CORDIS Project
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This project focuses on understanding noncoding mutations in the genome that may contribute to Mendelian diseases, particularly diabetes. By utilizing whole genome sequencing and epigenomic resources, the project aims to identify regulatory mutations that could expand diagnostic capabilities and enhance our understandi…
Whole genome sequencing is quickly becoming a routine clinical instrument.
However, our ability to decipher DNA variants is still largely limited to protein-coding exons, which comprise 1% of the genome.
Most known Mendelian mutations are in exons, yet genetic testing still fails to show causal coding mutations in more than 50% of well-characterized Mendelian disorders.
This defines a pressing need to interpret noncoding genome sequences, and to establish the role of noncoding mutations in Mende…
FUNDACIO CENTRE DE REGULACIO GENOMICA
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