Marta Tomaszkiewicz

The paper characterizes Variants of Uncertain Drug Resistance (VUDRs) using quantitative measurements from clinical exposures to imatinib, identifying resistance levels and ancestry-specific variants.

This study compares deep mutational scanning and CRISPR base editing for variant function annotation, finding strong correlation between base editor data and gold standard DMS results.

The paper analyzes transcript isoform diversity of Y-chromosomal ampliconic genes in six great ape species using long-read sequencing and identifies evolutionary patterns and pseudogenization trends.

The paper presents the complete sequence of a human Y chromosome, correcting errors in the GRCh38 reference and adding over 30 million base pairs.

IsoCon improves transcript reconstruction of highly similar multigene family transcripts using long-read sequencing, detecting rare variants and novel isoforms in Y ampliconic gene families.

RecoverY improves Y-chromosome assembly by automatically selecting Y-specific reads using k-mer abundance analysis, outperforming manual methods in simulated and real data.