For our next talk, in the BDI/CHG (gen)omics Seminar series, we will be hearing from Shamil Sunyaev, Professor of Biomedical Informatics, Harvard Medical School and Professor of Medicine, Brigham and Women’s Hospital. We’re delighted to host Shamil in what promises to be a great talk!

Talk title: Hotspots of human mutation detectable in population genetic data point to positive selection in spermatogonia
Date: Monday 9 March 2026
Time: 9:30 – 10:30 am
Location: BDI/OxPop Seminar room 0

Bio: Shamil Sunyaev is a Professor of Biomedical Informatics at Harvard Medical School and an Institute Member at the Broad Institute of MIT and Harvard. Shamil is a computational geneticist interested in many aspects of genetic variation from the evolutionary, functional and medical genetics perspectives. He obtained a PhD in molecular biophysics from the Moscow Institute of Physics and Technology and completed his postdoctoral training in bioinformatics at the European Molecular Biology Laboratory (EMBL). He works in the fields of mutagenesis, population and statistical genetics, and the functional effect of allelic variants

Abstract:
Sequencing datasets spanning hundreds of thousands of individuals uncover properties of rare genetic variation in humans. Owing to the size of recent human population, a large fraction of rare variants arise by mutation more than once. Due to such recurrent mutations, sites of higher de novo mutation rate are expected to harbor variants observed at higher counts than sites with low mutation rate. Recent progress in theoretical understanding of sampling properties of rare variants together with estimates of de novo mutation rate helps describing rare variation in humans with high precision. We estimated gene and variant-specific population genetics parameters from 700,000 exomes of the gnomAD v4 dataset. New estimates of strength of selection improved prioritization of pathogenic variants. We developed a method to detect mutational hotspots for protein truncating variants using population data alone. Our analysis identified known and predicted new genes involved in clonal expansion in spermatogonia (CES) and supported the hypothesis that CES is a major mechanism responsible for mutation hotspots.
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All members of the University are welcome to join, please let reception at BDI know you’re here for the seminar and sign-in. We hope you can join us!

We also now have a mailing list –
To be added, ping genomics_bdi_whg-subscribe@maillist.ox.ac.uk (with any message), you should get a bounce-back with three options to confirm your subscription. Follow any of those options, and with a bit of luck you should be signed up!

As a reminder, the (gen)omics seminar series runs every other Tuesday morning and is intended to increase interaction between individuals working in genomics across Oxford. We encourage in-person attendance where possible. There is time for discussion over, tea, coffee and pastries after the talks.

Hybrid Option:
Please note that these meetings are closed meetings and only open to members of the University of Oxford to encourage sharing of new and unpublished data. Please respect our speakers and do not share the link with anyone outside of the university.

Microsoft Teams meeting
teams.microsoft.com/meet/32071423216061?p=gKJKsuOCk1SsMX5uJE
Meeting ID: 320 714 232 160 61
Passcode: E3h8oA3N