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Articles by Markus Ball
Implementing whole genome and transcriptome sequencing for cancer patients in routine healthcare: a comprehensive guide to costing
Abstract Molecular characterisation of solid tumours contributes to a precise diagnosis and can uncover a range of drug targets and biomarkers, improving patient management. Whole genome sequencing (WGS) combined with whole transcriptome sequencing (WTS) is the most comprehensive approach in molecular cancer diagnostics and is therefore becoming increasingly integrated in clinical care.
Correction: Diagnostic whole transcriptome sequencing in a series of 1233 FFPE solid tumor samples - British Journal of Cancer
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Correction to: British Journal of Cancer https://doi.org/10.1038/s41416-025-03307-8, published online 14 January 2026 In this article, the author’s name, Olaf Neumann, was incorrectly written as Olaf Neuman. The original article has been corrected.
By Markus Ball, Susanne Beck, Tina Fuchs Verified, Katja Lorenz, Alejandro Robles, Michael Allgäuer, Anna-Lena Volckmar, Iordanis Ourailidis, Regine Brandt, Petros Christopoulos, Michael Thomas, Annette Fink, Olaf Neumann, Michael Menzel, Martina Kirchner, Thoas Fioretos, Peter Schirmacher, Solange Peters, Jan Budczies, Albrecht Stenzinger, Daniel Kazdal, Darius Wlochowitz, Christiane Zgorzelski, Hannah Goldschmid, Huriye Seker-Cin, Fabian Schnecko
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Nature
Verified
CG>TG mutation frequency as negative predictor of homologous recombination deficiency in ovarian and breast cancer - Communications Biology
Abstract Homologous recombination deficiency (HRD) is a predictive biomarker for PARP inhibition and platinum-based chemotherapy. While copy number alteration-based scores such as HRDsum = LST + TAI + LOH are included in therapy approvals, single base substitutions (SBS) are underinvestigated as predictors of HRD. WES data of the TCGA pan-cancer cohort and an in-house ovarian cancer cohort were annotated by alterations in BRCA1/2 and additional genes causative of HRD.
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients - npj Precision Oncology
Abstract A growing number of druggable targets and national initiatives for precision oncology necessitate broad genomic profiling for many cancer patients. Whole exome sequencing (WES) offers unbiased analysis of the entire coding sequence, segmentation-based detection of copy number alterations (CNAs), and accurate determination of complex biomarkers including tumor mutational burden (TMB), homologous recombination repair deficiency (HRD), and microsatellite instability (MSI).
Nivolumab and ipilimumab in recurrent or refractory cancer of unknown primary: a phase II trial - Nature Communications
Abstract Cancer of unknown primary has a dismal prognosis, especially following failure of platinum-based chemotherapy. 10-20% of patients have a high tumor mutational burden (TMB), which predicts response to immunotherapy in many cancer types. In this prospective, non-randomized, open-label, multicenter Phase II trial (EudraCT 2018-004562-33; NCT04131621), patients relapsed or refractory after platinum-based chemotherapy received nivolumab and ipilimumab following TMBhigh vs.
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing
Abstract The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data.
Leveraging Single-Cell RNA Sequencing Experiments to Model Intratumor Heterogeneity
In many cancers, there still exists a critical need to understand the mechanisms of the evolution of therapy resistance.
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