Francesc Muyas

SAVANA improves detection of somatic structural variants and copy number aberrations in cancer using long-read sequencing with higher sensitivity and specificity than existing tools.

scAI-SNP infers ancestry from single-cell data using ancestry-informative SNPs, showing robustness across diverse tissues and modalities.

The paper identifies mutational signatures SBS26 and SBS54 in MMRD tumors that correlate with immune checkpoint blockade response and survival, suggesting their use as prognostic biomarkers.

This study identifies chromothripsis and a novel LTA chromothripsis mechanism driving genome complexity and evolution in osteosarcoma, with prognostic implications for high-grade tumors.

SComatic detects somatic mutations in single-cell RNA-seq and ATAC-seq data without bulk DNA sequencing, achieving higher precision than existing methods.

The paper introduces BATI, a Bayesian rare variant association test that outperforms existing methods in detecting rare variants associated with complex diseases, especially when genetic variation explains little phenotypic variance.

The paper uses RNA sequencing from 49 tissues to estimate the rate and spectrum of mosaic mutations during embryogenesis, finding a similar frequency to germline de novo mutations and identifying a new mutational signature in the gastrointestinal tract.