Alicja Woźna

The Thousand Polish Genomes Project- a national database of Polish variant allele frequencies

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: Distribution-based feature extraction from copy number and structural variants in whole-genome data

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

Validation of HER2 status in whole genome sequencing data of breast cancers with AI-driven, ploidy-corrected approach

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