Demystifying emerging bulk RNA-Seq applications: the application and utility of bioinformatic methodology

AS Thind, I Monga, PK Thakur, P Kumari… - Briefings in …, 2021 - academic.oup.com
Significant innovations in next-generation sequencing techniques and bioinformatics tools
have impacted our appreciation and understanding of RNA. Practical RNA sequencing …

Next-Generation Sequencing Methodologies to Detect Low-Frequency Mutations:“Catch Me If You Can”

V Menon, DE Brash - Mutation Research/Reviews in Mutation Research, 2023 - Elsevier
Mutations, the irreversible changes in an organism's DNA sequence, are present in tissues
at a variant allele frequency (VAF) ranging from~ 10-8 per bp for a founder mutation to~ 10-3 …

Omics analyses of a somatic Trp53R245W/+ breast cancer model identify cooperating driver events activating PI3K/AKT/mTOR signaling

X Yu, Y Zhang, S Xiong, JM McDaniel… - Proceedings of the …, 2022 - National Acad Sciences
Alterations of the tumor suppressor TP53, one of the most common events in cancer, alone
are insufficient for tumor development but serve as drivers of transformation. We sought to …

GDF15 is an eribulin response biomarker also required for survival of DTP breast cancer cells

C Bellio, M Emperador, P Castellano, A Gris-Oliver… - Cancers, 2022 - mdpi.com
Simple Summary Drug tolerant persister (DTP) cells are a unique, small sub-population of
cancer cells that maintain viability under anti-cancer cytotoxic treatments. These cells enter …

A multi-platform reference for somatic structural variation detection

JE Valle-Inclan, NJM Besselink, E de Bruijn… - Cell Genomics, 2022 - cell.com
Accurate detection of somatic structural variation (SV) in cancer genomes remains a
challenging problem. This is in part due to the lack of high-quality, gold-standard datasets …

Progress in genome-inspired treatment decisions for multifocal lung adenocarcinoma

CL Powell, SA Saddoughi, DA Wigle - Expert Review of …, 2023 - Taylor & Francis
Introduction Multifocal lung adenocarcinoma (MFLA) is becoming increasingly recognized
as a distinct subset of lung cancer, with unique biology, disease course, and treatment …

The landscape and driver potential of site-specific hotspots across cancer genomes

RI Juul, MM Nielsen, M Juul, L Feuerbach… - NPJ Genomic …, 2021 - nature.com
Large sets of whole cancer genomes make it possible to study mutation hotspots genome-
wide. Here we detect, categorize, and characterize site-specific hotspots using 2279 whole …

Hotspot propensity across mutational processes

C Arnedo-Pac, F Muiños, A Gonzalez-Perez… - Molecular Systems …, 2024 - embopress.org
The sparsity of mutations observed across tumours hinders our ability to study mutation rate
variability at nucleotide resolution. To circumvent this, here we investigated the propensity of …

Cancer mutational signatures representation by large-scale context embedding

Y Zhang, Y Xiao, M Yang, J Ma - Bioinformatics, 2020 - academic.oup.com
Motivation The accumulation of somatic mutations plays critical roles in cancer development
and progression. However, the global patterns of somatic mutations, especially non-coding …

Privacy-preserving cancer type prediction with homomorphic encryption

E Sarkar, E Chielle, G Gursoy, L Chen, M Gerstein… - Scientific reports, 2023 - nature.com
Cancer genomics tailors diagnosis and treatment based on an individual's genetic
information and is the crux of precision medicine. However, analysis and maintenance of …