I am interested in human genetic variation and its underlying mutational origins. My research focuses on the mutational landscape of human genome during development and post birth and their association to different disease.
I am analysing single cell and bulk whole genome sequences of human germcells, to produce a comprehensive mutational model for human early development.
Moreover, I am developing analysis pipeline to study post-zygotic (somatic) mutations in high-resolution single cell genome sequences (DNA and RNA). These new pipelines will provide a complete genomic and transcriptomic profiles at a single cell resolution which, can be used to study different cell types. As a member of INSTALZ project, I am dedicated to applying these pipelines to study the extent of somatic heterogeneity in human neuronal cells, and their role in Alzheimer’s disease.
Previously I have worked on human germline mutation rate, timing, and spectra. For this study, I have analysed whole genome sequence data from multi-sibling families. I have demonstrated that germline mutation rate varies at different stages of human development and between the sexes. Moreover, I showed that germline mutational signatures are similar to the majority of spontaneous pre-neoplastic mutations, suggesting that mutational process underlying these signatures are operative in both germline and somatic cells.
A novel L1 retrotransposon marker for HeLa cell line identification.
IAP display: a simple method to identify mouse strain specific IAP insertions.
Molecular biotechnology 2011;47;3;243-52
Transduction-specific ATLAS reveals a cohort of highly active L1 retrotransposons in human populations.
Human mutation 2013;34;7;974-85
Timing, rates and spectra of human germline mutation.
Nature genetics 2016;48;2;126-133