From genetics to the clinic: a translational perspective on follicular lymphoma

S Huet, P Sujobert, G Salles - Nature Reviews Cancer, 2018 - nature.com
Follicular lymphoma (FL) is the most frequent indolent B cell lymphoma and is still
considered to be incurable. In recent years, whole-exome sequencing studies of large …

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework

A Khan, O Fornes, A Stigliani, M Gheorghe… - Nucleic acids …, 2018 - academic.oup.com
Abstract JASPAR (http://jaspar. genereg. net) is an open-access database of curated, non-
redundant transcription factor (TF)-binding profiles stored as position frequency matrices …

The UCSC Xena platform for public and private cancer genomics data visualization and interpretation

M Goldman, B Craft, M Hastie, K Repečka, F McDade… - biorxiv, 2018 - biorxiv.org
UCSC Xena is a visual exploration resource for both public and private omics data,
supported through the web-based Xena Browser and multiple turn-key Xena Hubs. This …

[HTML][HTML] Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma

SE Arthur, A Jiang, BM Grande, M Alcaide… - Nature …, 2018 - nature.com
Diffuse large B-cell lymphoma (DLBCL) is an aggressive cancer originating from mature B-
cells. Prognosis is strongly associated with molecular subgroup, although the driver …

[HTML][HTML] Beyond the exome: the role of non-coding somatic mutations in cancer

SW Piraino, SJ Furney - Annals of oncology, 2016 - Elsevier
The comprehensive identification of mutations contributing to the development of cancer is a
priority of large cancer sequencing projects. To date, most studies have scrutinized …

Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4

S Lv, L Ji, B Chen, S Liu, C Lei, X Liu, X Qi, Y Wang… - Oncogene, 2018 - nature.com
Abnormalities in epigenetic modifiers are emerging as driving events in prostate cancer
(PCa). The histone methyltransferase KMT2D, a frequently aberrant epigenetic modifier in …

TERT promoter mutations and monoallelic activation of TERT in cancer

FW Huang, CM Bielski, ML Rinne, WC Hahn… - Oncogenesis, 2015 - nature.com
Here we report that promoter mutations in telomerase (TERT), the most common noncoding
mutations in cancer, give rise to monoallelic expression of TERT. Through deep RNA …

Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma

ME Feigin, T Garvin, P Bailey, N Waddell, DK Chang… - Nature …, 2017 - nature.com
The contributions of coding mutations to tumorigenesis are relatively well known; however,
little is known about somatic alterations in noncoding DNA. Here we describe GECCO …

Evaluating the impact of single nucleotide variants on transcription factor binding

W Shi, O Fornes, A Mathelier… - Nucleic acids …, 2016 - academic.oup.com
Diseases and phenotypes caused by disrupted transcription factor (TF) binding are being
identified, but progress is hampered by our limited capacity to predict such functional …

Identifying functional regulatory mutation blocks by integrating genome sequencing and transcriptome data

M Yang, O Ali, M Bjørås, J Wang - Iscience, 2023 - cell.com
Millions of single nucleotide variants (SNVs) exist in the human genome; however, it
remains challenging to identify functional SNVs associated with diseases. We propose a …