Accurate and efficient detection of gene fusions from RNA sequencing data

S Uhrig, J Ellermann, T Walther, P Burkhardt… - Genome …, 2021 - genome.cshlp.org
The identification of gene fusions from RNA sequencing data is a routine task in cancer
research and precision oncology. However, despite the availability of many computational …

Comprehensive genomic and transcriptomic analysis for guiding therapeutic decisions in patients with rare cancers

P Horak, C Heining, S Kreutzfeldt, B Hutter, A Mock… - Cancer discovery, 2021 - AACR
The clinical relevance of comprehensive molecular analysis in rare cancers is not
established. We analyzed the molecular profiles and clinical outcomes of 1,310 patients …

International consensus on the initial diagnostic workup of cancer of unknown primary

I van der Strate, F Kazemzadeh, ID Nagtegaal… - Critical Reviews in …, 2023 - Elsevier
Background Although the incidence of Cancer of Unknown Primary (CUP) is estimated to be
1–2% of all cancers worldwide, no international standards for diagnostic workup are yet …

Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity

L Möhrmann, M Werner, M Oleś, A Mock… - Nature …, 2022 - nature.com
The benefit of molecularly-informed therapies in cancer of unknown primary (CUP) is
unclear. Here, we use comprehensive molecular characterization by whole genome/exome …

High‐throughput molecular assays for inclusion in personalised oncology trials–State‐of‐the‐art and beyond

A Edsjö, HG Russnes, J Lehtiö… - Journal of internal …, 2024 - Wiley Online Library
In the last decades, the development of high‐throughput molecular assays has
revolutionised cancer diagnostics, paving the way for the concept of personalised cancer …

Variant classification in precision oncology

J Leichsenring, P Horak, S Kreutzfeldt… - … Journal of Cancer, 2019 - Wiley Online Library
Next‐generation sequencing has become a cornerstone of therapy guidance in cancer
precision medicine and an indispensable research tool in translational oncology. Its rapidly …

Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare …

A Jahn, A Rump, TJ Widmann, C Heining, P Horak… - Annals of …, 2022 - Elsevier
Background Germline variant evaluation in precision oncology opens new paths toward the
identification of patients with genetic tumor risk syndromes and the exploration of therapeutic …

NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology

A Mock, MV Teleanu, S Kreutzfeldt, CE Heilig… - NPJ Precision …, 2023 - nature.com
Abstract Analysis of selected cancer genes has become an important tool in precision
oncology but cannot fully capture the molecular features and, most importantly …

Confirming putative variants at≤ 5% allele frequency using allele enrichment and Sanger sequencing

YH Yan, SX Chen, LY Cheng, AY Rodriguez, R Tang… - Scientific reports, 2021 - nature.com
Whole exome sequencing (WES) is used to identify mutations in a patient's tumor DNA that
are predictive of tumor behavior, including the likelihood of response or resistance to cancer …

Next-generation sequencing in dermatology

AD King, H Deirawan, PA Klein, B Dasgeb… - Frontiers in …, 2023 - frontiersin.org
Over the past decade, Next-Generation Sequencing (NGS) has advanced our
understanding, diagnosis, and management of several areas within dermatology. NGS has …