Uirá Souto Melo

Max Planck Institute for Molecular Genetics, Germany

Title: 3D Genomics and Diseases

Abstract: Genome-wide analysis methods, such as array comparative genomic hybridization (CGH) and whole-genome sequencing (WGS), have greatly advanced the identification of structural variants (SVs) in the human genome. However, even with standard high-throughput sequencing techniques, complex rearrangements with multiple breakpoints are often difficult to resolve, and predicting their effects on gene expression and phenotype remains a challenge. Our group addresses these problems by using high-throughput chromosome conformation capture (Hi-C) in samples from patients with Genetic Diseases. Studying the 3-dimension structure of the DNA and how SVs can influence its normal folding is a hot topic in the fields of Human Genetics, Cancer and Evolutionary Biology.