Contribution of 3D genome topological domains to genetic risk of cancers: a genome-wide computational study.
Kim Philipp JablonskiLeopold CarronJulien MozziconacciThierry FornéMarc-Thorsten HüttAnnick LesnePublished in: Human genomics (2022)
Our results suggest that, for certain diseases, part of the genetic risk lies in a local genetic variation affecting the genome partitioning in topologically insulated domains. Investigating this possible contribution to genetic risk is particularly relevant in cancers. This study thus opens a way of interpreting genome-wide association studies, by distinguishing two types of disease-associated SNPs: one with an effect on an individual gene, the other acting in interplay with 3D genome organization.