Simona Bianco — Università degli Studi di Napoli “Federico II” #
Polymer physics models to predict the effect of structural variants on chromosome folding #
The complex three-dimensional organization of chromosomes inside the cell nucleus is fundamental for regulating the cell biological functions. Genomic structural variants (SVs), such as deletions, duplications or inversions, often lead to abnormal chromosome folding causing gene misexpression and disease. However, the mechanisms determining the 3D genome organization are still largely unknown and the prediction of the effects of SVs remains a challenge. I discuss a polymer physics based method (PRISMR) to model chromosome folding and to predict enhancer-promoter contacts. In particular, the effects of pathogenic SVs at the EPHA4 locus are predicted in-silico and compared to experimental capture Hi-C data in mouse limb buds and human fibroblasts.