CORDIS Project
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The IN2DIAG project focuses on developing a novel diagnostic tool for identifying genetic inversions associated with diseases. By utilizing a high-throughput genotyping technique, the project aims to enhance understanding of these genetic variants and their implications for precision medicine.
Despite the initial high expectations of genome variation studies, only a small proportion of the genetic risk of common and complex diseases has been identified so far.
Most of the work has focused on single nucleotide polymorphisms (SNPs) and copy number variants (CNVs).
Inversions, on the other hand, are a type of structural variant that affects a large fraction of the human genome and is implicated in phenotypic differences in diverse organisms.
However, they have been poorly studied because…
UNIVERSITAT AUTONOMA DE BARCELONA
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