Tomasz Stokowy

This study investigates the role of Tcte1 mutations in male infertility using mouse models and human samples, finding haploinsufficiency and disrupted sperm function.

eXNVerify evaluates genome coverage for clinical sequencing data, focusing on pathogenic variants in BRCA1, TP53, and CFTR, and is available on GitHub and DockerHub.

This study compares three germline variant calling pipelines for WGS data, finding DRAGEN and DeepVariant offer better accuracy with no significant difference in F1-score, while DRAGEN provides higher efficiency.

The paper compares three variant callers for human whole genome sequencing and finds DeepVariant outperforms others in indel calling.