[HTML][HTML] Mismatch repair deficiency is not sufficient to elicit tumor immunogenicity

PMK Westcott, F Muyas, H Hauck, OC Smith… - Nature Genetics, 2023 - nature.com
DNA mismatch repair deficiency (MMRd) is associated with a high tumor mutational burden (TMB)
and sensitivity to immune checkpoint blockade (ICB) therapy. Nevertheless, most …

[PDF][PDF] Mapping single-cell transcriptomes in the intra-tumoral and associated territories of kidney cancer

…, KW Loudon, GS Bowyer, S Laidlaw, F Muyas… - Cancer Cell, 2022 - cell.com
Tumor behavior is intricately dependent on the oncogenic properties of cancer cells and
their multi-cellular interactions. To understand these dependencies within the wider …

[HTML][HTML] Dynamics of cell-free tumour DNA correlate with treatment response of head and neck cancer patients receiving radiochemotherapy

FJ Hilke, F Muyas, J Admard, B Kootz, D Nann… - Radiotherapy and …, 2020 - Elsevier
Purpose Definitive radiochemotherapy (RCTX) with curative intent is one of the standard
treatment options in patients with locally advanced head and neck squamous cell carcinoma (…

Genomics of Ecological Adaptation in Cactophilic Drosophila

…, N Rius, A Delprat, A Williford, F Muyas… - Genome biology and …, 2015 - academic.oup.com
… buzzatii genome with few exceptions (Negre B, Muyas F, Guillén Y, Ruiz A, in preparation).
The gene slouch is separated from the rest of the NK-C in D. buzzatii and also in all other …

[HTML][HTML] De novo detection of somatic mutations in high-throughput single-cell profiling data sets

F Muyas, CM Sauer, JE Valle-Inclán, R Li… - Nature …, 2023 - nature.com
Abstract Characterization of somatic mutations at single-cell resolution is essential to study
cancer evolution, clonal mosaicism and cell plasticity. Here, we describe SComatic, an …

[HTML][HTML] The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

F Muyas, L Zapata, R Guigó, S Ossowski - Genome Medicine, 2020 - Springer
Background Mosaic mutations acquired during early embryogenesis can lead to severe
early-onset genetic disorders and cancer predisposition, but are often undetectable in blood …

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

SM Waszak, G Tiao, B Zhu, T Rausch, F Muyas… - BioRxiv, 2017 - biorxiv.org
Cancers develop through somatic mutagenesis, however germline genetic variation can
markedly contribute to tumorigenesis via diverse mechanisms. We discovered and phased 88 …

Allele balance bias identifies systematic genotyping errors and false disease associations

F Muyas, M Bosio, A Puig, H Susak… - Human …, 2019 - Wiley Online Library
In recent years, next‐generation sequencing (NGS) has become a cornerstone of clinical
genetics and diagnostics. Many clinical applications require high precision, especially if rare …

[PDF][PDF] A comprehensive clinically informed map of dependencies in cancer cells and framework for target prioritization

…, S Horswell, E Karakoc, H Lightfoot, E Curry, F Muyas… - Cancer Cell, 2024 - cell.com
Genetic screens in cancer cell lines inform gene function and drug discovery. More
comprehensive screen datasets with multi-omics data are needed to enhance opportunities to …

Specialized replication mechanisms maintain genome stability at human centromeres

A Scelfo, A Angrisani, M Grillo, BM Barnes, F Muyas… - Molecular Cell, 2024 - cell.com
The high incidence of whole-arm chromosome aneuploidy and translocations in tumors
suggests instability of centromeres, unique loci built on repetitive sequences and essential for …