Milovan Šuvakov

This study characterizes somatic mutations in urine-derived iPSCs, showing they reflect age-related genomic changes and can trace developmental lineages non-invasively.

The paper uses single-cell DNA sequencing to analyze somatic mosaicism in postmortem lung and colon tissues, revealing mutation heterogeneity, chromosomal abnormalities, and cellular ancestry.

This study uses single-cell whole genome amplification to link somatic mutations to cell identity and ancestry in a live donor.

This study corrects a pathogenic ATAD3A variant in iPSCs using CRISPR-Cas9-induced gene conversion without donor templates, showing high efficiency and dependence on HR proteins.

The paper shows that clonally selected CRISPR-edited cell lines acquire many culture-specific mutations, making them non-isogenic, and recommends comparing multiple edited and unedited line mixes.

All2 filters mosaic mutations from multi-cell comparisons by classifying variants as germline, mosaic, or false positive, improving sensitivity and reducing false positives in whole genome and exome analysis.

The paper models ASD in organoids and finds transcriptomic imbalances in excitatory cortical neuron subtypes during early neurogenesis in ASD probands.

CNVpytor is a Python-based tool for detecting and analyzing CNVs/CNAs from whole genome sequencing data, offering improved speed, functionality, and visualization compared to CNVnator.