[HTML][HTML] Using R and bioconductor in clinical genomics and transcriptomics

JL Sepulveda - The Journal of Molecular Diagnostics, 2020 - Elsevier
Bioinformatics pipelines are essential in the analysis of genomic and transcriptomic data
generated by next-generation sequencing (NGS). Recent guidelines emphasize the need …

Discovering and understanding oncogenic gene fusions through data intensive computational approaches

NS Latysheva, MM Babu - Nucleic acids research, 2016 - academic.oup.com
Although gene fusions have been recognized as important drivers of cancer for decades,
our understanding of the prevalence and function of gene fusions has been revolutionized …

Comparative assessment of methods for the fusion transcripts detection from RNA-Seq data

S Kumar, AD Vo, F Qin, H Li - Scientific reports, 2016 - nature.com
RNA-Seq made possible the global identification of fusion transcripts, ie “chimeric RNAs”.
Even though various software packages have been developed to serve this purpose, they …

JAFFA: High sensitivity transcriptome-focused fusion gene detection

NM Davidson, IJ Majewski, A Oshlack - Genome medicine, 2015 - Springer
Genomic instability is a hallmark of cancer and, as such, structural alterations and fusion
genes are common events in the cancer landscape. RNA sequencing (RNA-Seq) is a …

Transcriptome meta-analysis of lung cancer reveals recurrent aberrations in NRG1 and Hippo pathway genes

SM Dhanasekaran, O Alejandro Balbin, G Chen… - Nature …, 2014 - nature.com
Lung cancer is emerging as a paradigm for disease molecular subty**, facilitating
targeted therapy based on driving somatic alterations. Here we perform transcriptome …

The oncogenic fusion landscape in pediatric CNS neoplasms

M Roosen, Z Odé, J Bunt, M Kool - Acta Neuropathologica, 2022 - Springer
Pediatric neoplasms in the central nervous system (CNS) are the leading cause of cancer-
related deaths in children. Recent developments in molecular analyses have greatly …

NCLscan: accurate identification of non-co-linear transcripts (fusion, trans-splicing and circular RNA) with a good balance between sensitivity and precision

TJ Chuang, CS Wu, CY Chen, LY Hung… - Nucleic acids …, 2016 - academic.oup.com
Abstract Analysis of RNA-seq data often detects numerous 'non-co-linear'(NCL) transcripts,
which comprised sequence segments that are topologically inconsistent with their …

Informatics for RNA sequencing: a web resource for analysis on the cloud

M Griffith, JR Walker, NC Spies… - PLoS computational …, 2015 - journals.plos.org
Massively parallel RNA sequencing (RNA-seq) has rapidly become the assay of choice for
interrogating RNA transcript abundance and diversity. This article provides a detailed …

Identifying fusion transcripts using next generation sequencing

S Kumar, SK Razzaq, AD Vo… - Wiley Interdisciplinary …, 2016 - Wiley Online Library
Fusion transcripts (ie, chimeric RNAs) resulting from gene fusions have been used
successfully for cancer diagnosis, prognosis, and therapeutic applications. In addition, many …

[HTML][HTML] Gene duplication and gene fusion are important drivers of tumourigenesis during cancer evolution

C Glenfield, H Innan - Genes, 2021 - mdpi.com
Chromosomal rearrangement and genome instability are common features of cancer cells in
human. Consequently, gene duplication and gene fusion events are frequently observed in …