Dr Raheleh Rahbari | Postdoctoral Fellow

Rahbari, Raheleh

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.

    Rahbari R, Sheahan T, Modes V, Collier P, Macfarlane C and Badge RM

    BioTechniques 2009;46;4;277-84

  • IAP display: a simple method to identify mouse strain specific IAP insertions.

    Ray A, Rahbari R and Badge RM

    Molecular biotechnology 2011;47;3;243-52

  • Transduction-specific ATLAS reveals a cohort of highly active L1 retrotransposons in human populations.

    Macfarlane CM, Collier P, Rahbari R, Beck CR, Wagstaff JF et al.

    Human mutation 2013;34;7;974-85

  • Timing, rates and spectra of human germline mutation.

    Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB et al.

    Nature genetics 2016;48;2;126-133

Career/Research Highlights

Rahbari, Raheleh
Raheleh's Timeline

Joined Voets group, to develop new analysis pipeline to study germline and post-zygotic (somatic) mutations in high-resolution single cell genome sequences


Started a postdoc in Hurles group at the Sanger Institute to work on: Rate of germline de novo mutation and parental age and sex effect


Joined Hollox group in Leicester, for one year, as a research associate to study; Rate of de novo copy number variation at Fcɣ receptor loci

Obtained my PhD in Medical Genetics at the university of Leicester, worked on Rate of LINE1 retrotransposons in human embryonal cells