Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

The Genome in a Three-Dimensional Context: Deciphering the Contribution of Noncoding Mutations at Enhancers to Blood Cancer

Version 1 : Received: 30 July 2020 / Approved: 2 August 2020 / Online: 2 August 2020 (09:33:40 CEST)

How to cite: Rovirosa-Mulet, L.; Ramos-Morales, A.; Javierre, B.M. The Genome in a Three-Dimensional Context: Deciphering the Contribution of Noncoding Mutations at Enhancers to Blood Cancer. Preprints 2020, 2020080007 (doi: 10.20944/preprints202008.0007.v1). Rovirosa-Mulet, L.; Ramos-Morales, A.; Javierre, B.M. The Genome in a Three-Dimensional Context: Deciphering the Contribution of Noncoding Mutations at Enhancers to Blood Cancer. Preprints 2020, 2020080007 (doi: 10.20944/preprints202008.0007.v1).

Abstract

Associations between blood cancer and genetic predisposition, including both inherited variants and acquired mutations and epimutations, have been well characterized. However, the majority of these variants affect noncoding regions, making their mechanisms difficult to hypothesize and hindering the translation of these insights into patient benefits. Fueled by unprecedented progress in next-generation sequencing and computational integrative analysis, studies have started applying combinations of epigenetic, genome architecture and functional assays to bridge the gap between noncoding variants and blood cancer. These complementary tools have not only allowed us to understand the potential malignant role of these variants but also to differentiate key variants, cell types and conditions from misleading ones. Here, we briefly review recent studies that have provided fundamental insights into our understanding of how noncoding mutations at enhancers predispose and promote blood malignancies in the context of spatial genome architecture.

Subject Areas

spatial genome architecture; 3D chromatin organization; DNA loops; noncoding mutations; enhancer; blood cancer; hematopoietic malignancies

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