Paweł Sztromwasser

This study assesses microhomology-associated deletions in cancer genomes, identifies their prognostic significance, and optimizes detection parameters for improved patient stratification.

The paper describes the creation of a national database of Polish genomic variant allele frequencies using 1,079 whole genomes, identifying rare variants and confirming allele frequencies for known pathogenic variants.

DBFE extracts features from genomic variants to improve classifier learning in cancer genomics, identifying biomarkers linked to cancer subtypes and treatment response.

The paper develops an AI-driven, ploidy-corrected method using whole genome sequencing to accurately determine HER2 status in breast cancer patients.

This study evaluates the accuracy of somatic variant detection workflows in WGS experiments using real and synthetic data, finding DRAGEN excels in sensitivity while CGP-WGS performs better in precision.