Jose Espejo Valle-Inclan

Jul 6, 2023 | nature.com | Carolin M Sauer |Jose Espejo Valle-Inclan |Thomas Mitchell

AbstractCharacterization of somatic mutations at single-cell resolution is essential to study cancer evolution, clonal mosaicism and cell plasticity. Here, we describe SComatic, an algorithm designed for the detection of somatic mutations in single-cell transcriptomic and ATAC-seq (assay for transposase-accessible chromatin sequence) data sets directly without requiring matched bulk or single-cell DNA sequencing data.

May 17, 2023 | nature.com | Jake Lee |Taek-Chin Cheong |Jose Espejo Valle-Inclan |Chong Chu |Isidro Cortes-Ciriano |Stephen J. Elledge | +3 more

AbstractFocal copy-number amplification is an oncogenic event. Although recent studies have revealed the complex structure1,2,3 and the evolutionary trajectories4 of oncogene amplicons, their origin remains poorly understood. Here we show that focal amplifications in breast cancer frequently derive from a mechanism—which we term translocation–bridge amplification—involving inter-chromosomal translocations that lead to dicentric chromosome bridge formation and breakage.

Feb 27, 2023 | biorxiv.org | Jose Espejo Valle-Inclan |Isidro Cortes-Ciriano

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