Current status of structural variation studies in plants

Y Yuan, PE Bayer, J Batley… - Plant Biotechnology …, 2021 - Wiley Online Library
Structural variations (SVs) including gene presence/absence variations and copy number
variations are a common feature of genomes in plants and, together with single nucleotide …

Detection of genomic structural variants from next-generation sequencing data

L Tattini, R D'Aurizio, A Magi - Frontiers in bioengineering and …, 2015 - frontiersin.org
Structural variants are genomic rearrangements larger than 50 bp accounting for around 1%
of the variation among human genomes. They impact on phenotypic diversity and play a role …

Genomic characterization of metastatic breast cancers

F Bertucci, CKY Ng, A Patsouris, N Droin, S Piscuoglio… - Nature, 2019 - nature.com
Metastasis is the main cause of death for patients with breast cancer. Many studies have
characterized the genomic landscape of breast cancer during its early stages. However …

Aberrant FGFR signaling mediates resistance to CDK4/6 inhibitors in ER+ breast cancer

L Formisano, Y Lu, A Servetto, AB Hanker… - Nature …, 2019 - nature.com
Using an ORF kinome screen in MCF-7 cells treated with the CDK4/6 inhibitor ribociclib plus
fulvestrant, we identified FGFR1 as a mechanism of drug resistance. FGFR1-amplified/ER+ …

Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software

DL Cameron, L Di Stefano, AT Papenfuss - Nature communications, 2019 - nature.com
In recent years, many software packages for identifying structural variants (SVs) using whole-
genome sequencing data have been released. When published, a new method is commonly …

GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly

DL Cameron, J Schröder, JS Penington, H Do… - Genome …, 2017 - genome.cshlp.org
The identification of genomic rearrangements with high sensitivity and specificity using
massively parallel sequencing remains a major challenge, particularly in precision medicine …

Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia

M Sebert, S Gachet, T Leblanc, A Rousseau, O Bluteau… - Cell Stem Cell, 2023 - cell.com
Fanconi anemia (FA) patients experience chromosome instability, yielding hematopoietic
stem/progenitor cell (HSPC) exhaustion and predisposition to poor-prognosis myeloid …

Efficacy of BGJ398, a Fibroblast Growth Factor Receptor 1–3 Inhibitor, in Patients with Previously Treated Advanced Urothelial Carcinoma with FGFR3 Alterations

SK Pal, JE Rosenberg, JH Hoffman-Censits, R Berger… - Cancer discovery, 2018 - AACR
BGJ398, a potent and selective pan-FGFR antagonist, was prospectively evaluated in
patients with metastatic urothelial carcinoma bearing a diverse array of FGFR3 alterations …

UV-associated mutations underlie the etiology of MCV-negative Merkel cell carcinomas

SQ Wong, K Waldeck, IA Vergara, J Schröder… - Cancer research, 2015 - AACR
Merkel cell carcinoma (MCC) is an uncommon, but highly malignant, cutaneous tumor.
Merkel cell polyoma virus (MCV) has been implicated in a majority of MCC tumors; however …

Tracking the origins and drivers of subclonal metastatic expansion in prostate cancer

MKH Hong, G Macintyre, DC Wedge, P Van Loo… - Nature …, 2015 - nature.com
Tumour heterogeneity in primary prostate cancer is a well-established phenomenon.
However, how the subclonal diversity of tumours changes during metastasis and …