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The analysis of a growing number of rare human disorders highlights the difficulties in establishing their genotype-phenotype relationship, due to non-mendelian patterns of inheritance, incomplete penetrance, phenotypic variability or locus heterogeneity. In these situations, we often need to consider more complex genetic patterns, where mutations...

The objectives of the projets are: (i) to establish the multi-omics cell type-specific profiles for pancreatic Langerhans islet cells to the pathogenesis of diabetes; (ii) to quantify the heterogeneity of cells in Langerhans islet samples; (iii) to determinate the effect methylation DNA age-acceleration in the...

In the era of high-throughput massive parallel sequencing, genome-wide analyses have become standard in medical health care. Although this (r)evolutionary technology has been increasingly important in the improvement of the genetic diagnostic yield in patients with rare genetic diseases, scientists and health care providers still...