Alterations in Chromatin Folding Patterns in Cancer Variant-Enriched Loci

摘要

In this study, we focus on the following question: do genomic regions enriched in cancer variant mutations have significantly different chromatin folding patterns? We utilize publicly available Hi-C data to characterize chromatin folding patterns in healthy (GM12878) and cancer (K562) cells based on status of A/B compartmentalization and random vs non-random chromatin physical interactions. We then perform statistical testing to assess if chromatin folding patterns in cancer variant-enriched loci are significantly different from non-enriched loci. Our results indicate that loci with cancer variant status have significantly altered ($mathbf{FDR} < 0.05$) chromatin folding patterns. Source code is available via git repository https://bitbucket.org/aperezrathke/chr-loc-cancer-bhi.