Systematic Evaluation of Somatic Cis-Regulatory Mutations in Follicular Lymphoma

Conference paper


Firat U., Bewicke-Copley, F., Anene, C., Schlesner, M., Icgc MMML-Seq Project3, Siebert, R., Okosun, J., Fitzgibbon, J. and Wang, J (2020). Systematic Evaluation of Somatic Cis-Regulatory Mutations in Follicular Lymphoma. American Society of Hematology. https://doi.org/10.1182/blood-2020-142623
AuthorsFirat U., Bewicke-Copley, F., Anene, C., Schlesner, M., Icgc MMML-Seq Project3, Siebert, R., Okosun, J., Fitzgibbon, J. and Wang, J
TypeConference paper
Abstract

Follicular lymphoma (FL) is an incurable indolent B cell malignancy characterized in the majority of cases by the t(14;18) translocation. While the mutational landscape of the coding genome is nearing completion, less is known about the characteristics of its noncoding genome. Our expectation is that the distribution of noncoding mutations will be non-random, determined by epigenomics features, such as chromatin modification and accessibility. Our strategy is therefore to integrate whole genome epigenomic marks and mutations in order to enrich for variants with regulatory potential and identify unique mutational processes specific to thesecis-regulatory elements (CREs).Allele-specific expression (ASE) patterns allow further refinement to resolve functional CREs and bona fide mutations associated with changes in gene expression.

Year2020
PublisherAmerican Society of Hematology
Journal citation136 (Supplement 1)
ISSN0006-4971
Digital Object Identifier (DOI)https://doi.org/10.1182/blood-2020-142623
Web address (URL)https://ashpublications.org/blood/article/136/Supplement%201/26/472598/Systematic-Evaluation-of-Somatic-Cis-Regulatory
Accepted author manuscript
License
File Access Level
Open
Publication dates
Print20 Nov 2020
Publication process dates
Deposited30 Jun 2022
Additional information

This research was originally published in Blood. Firat Uyulur, MSc, Findlay Bewicke-Copley, PhD MSc, BSc, Chinedu Anthony Anene, PhD, Matthias Schlesner, PhD, Icgc MMML-Seq Project, Reiner Siebert, Prof. Dr. MD, Jessica Okosun, MD PhD, Jude Fitzgibbon, PhD, Jun Wang, PhD. Systematic Evaluation of Somatic Cis-Regulatory Mutations in Follicular Lymphoma. Blood. 2020;Vol:136, Supplement 1. © the American Society of Hematology

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