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SUMMARY:Extensive Cryptic Variation in the Mutation Rate in the Human Geno
 me
DTSTART:20140312T151500
DTSTAMP:20260407T025913Z
UID:7d6e34ecea64ee1eb8a51361b2539c829ae0d531a0a8e2e3f9f9c112
CATEGORIES:Conferences - Seminars
DESCRIPTION:Prof. Adam Eyre-Walker\, University of Sussex\, Brighton (UK)\
 nBio: Adam Eyre-Walker was educated at Shrewsbury School\, where Darwin wa
 s a student\, Nottingham University and Edinburgh University\, where he di
 d his PhD with William G. Hill. He then did two post-doctoral research fel
 lowships at Rutgers University\, with Michael Bulmer and Brandom Gaut\, be
 fore returning to the UK as a Royal Society University Research Fellow at 
 the University of Sussex. He held his fellowship until 2004 when he became
  a Reader\, before being promoted to Professor in 2005.\nBIOENGINEERING SE
 MINAR\nIt is known that the mutation rate varies across a genome at variou
 s different scales\, from differences between whole chromosomes to differe
 nces between adjacent sites. Variation at the single nucleotide level is k
 nown to be associated with context\, such as the CpG effect\, in which CG 
 dinucleotides have 10-15 fold higher mutation rates than other sites. Howe
 ver\, a few years ago we demonstrated that is an excess of sites that have
  single nucleotide polymorphisms in humans and chimpanzees\, even when var
 iation in the mutation rate due to context is taken into account. We showe
 d that this excess was unlikely to be due to ancestral polymorphism\, sele
 ction or sequencing artifacts and therefore concluded that the excess was 
 due to context-free variation in the mutation rate. We have now concluded 
 an analysis of de novo mutations in genes associated with Mendelian diseas
 es. We again find evidence of variation in the mutation rate that cannot b
 e explained in terms of simple context. Furthermore we estimate that the v
 ariation is very substantial\; for a particular context we estimate that t
 he mutation rate probably varies by more than 100-fold. The reasons for th
 is variation however remain unclear.
LOCATION:SV1717A http://map.epfl.ch/?room=sv1717a
STATUS:CONFIRMED
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