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SUMMARY:Hotspots of human mutation detectable in population genetic data p
 oint to positive selection in spermatogonia - Prof Shamil Sunyaev (Harvard
  Medical School)
DTSTART;VALUE=DATE-TIME:20260309T093000Z
DTEND;VALUE=DATE-TIME:20260309T103000Z
UID:https://talks.ox.ac.uk/talks/id/4173612b-9386-4951-840f-3ad6fc518ae7/
DESCRIPTION:For our next talk\, in the BDI/CHG (gen)omics Seminar series\,
  we will be hearing from Shamil Sunyaev\, Professor of Biomedical Informat
 ics\, Harvard Medical School and Professor of Medicine\, Brigham and Women
 ’s Hospital. We’re delighted to host Shamil in what promises to be a g
 reat talk!\n\nTalk title: Hotspots of human mutation detectable in populat
 ion genetic data point to positive selection in spermatogonia\nDate: Monda
 y 9 March 2026\nTime: 9:30 – 10:30 am\nLocation: BDI/OxPop Seminar room 
 0\n\nBio: Shamil Sunyaev is a Professor of Biomedical Informatics at Harva
 rd Medical School and an Institute Member at the Broad Institute of MIT an
 d Harvard. Shamil is a computational geneticist interested in many aspects
  of genetic variation from the evolutionary\, functional and medical genet
 ics perspectives. He obtained a PhD in molecular biophysics from the Mosco
 w Institute of Physics and Technology and completed his postdoctoral train
 ing in bioinformatics at the European Molecular Biology Laboratory (EMBL).
  He works in the fields of mutagenesis\, population and statistical geneti
 cs\, and the functional effect of allelic variants\n\nAbstract: \nSequenci
 ng datasets spanning hundreds of thousands of individuals uncover properti
 es 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 sa
 mpling properties of rare variants together with estimates of de novo muta
 tion rate helps describing rare variation in humans with high precision. W
 e estimated gene and variant-specific population genetics parameters from 
 700\,000 exomes of the gnomAD v4 dataset. New estimates of strength of sel
 ection improved prioritization of pathogenic variants. We developed a meth
 od to detect mutational hotspots for protein truncating variants using pop
 ulation data alone. Our analysis identified known and predicted new genes 
 involved in clonal expansion in spermatogonia (CES) and supported the hypo
 thesis that CES is a major mechanism responsible for mutation hotspots.\n
 ————————————————————————
 ————————————————\nAll members of the Unive
 rsity 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!\n\nWe also now have
  a mailing list –\nTo be added\, ping genomics_bdi_whg-subscribe@maillis
 t.ox.ac.uk (with any message)\, you should get a bounce-back with three op
 tions to confirm your subscription. Follow any of those options\, and with
  a bit of luck you should be signed up!\n\nAs a reminder\, the (gen)omics 
 seminar series runs every other Tuesday morning and is intended to increas
 e interaction between individuals working in genomics across Oxford. We en
 courage in-person attendance where possible. There is time for discussion 
 over\, tea\, coffee and pastries after the talks.\n\nHybrid Option:\nPleas
 e 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 outsid
 e of the university.\n\nMicrosoft Teams meeting \nhttps://teams.microsoft.
 com/meet/32071423216061?p=gKJKsuOCk1SsMX5uJE \nMeeting ID: 320 714 232 160
  61 \nPasscode: E3h8oA3N\n\n\nSpeakers:\nProf Shamil Sunyaev (Harvard Medi
 cal School)
LOCATION:Big Data Institute (Seminar room 0)\, Old Road Campus OX3 7LF
TZID:Europe/London
URL:https://talks.ox.ac.uk/talks/id/4173612b-9386-4951-840f-3ad6fc518ae7/
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DESCRIPTION:Talk:Hotspots of human mutation detectable in population genet
 ic data point to positive selection in spermatogonia - Prof Shamil Sunyaev
  (Harvard Medical School)
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