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SUMMARY:Insights into human biology from patterns of genetic variation - D
 r Chris Tyler-Smith - The Wellcome Trust Sanger Institute
DTSTART:20140220T160000Z
DTEND:20140220T170000Z
UID:TALK50106@talks.cam.ac.uk
CONTACT:Philipe Mendonca
DESCRIPTION:Advances in DNA sequencing technology have now made whole-geno
 me sequencing of human population samples feasible. The patterns of variat
 ion that we discover in our genomes provide information about the function
  of different types of genomic element\, and about our evolutionary past. 
 A small part of our genome (1-2%) codes for proteins\, and these sequences
  generally show low levels of variation\; many genetic disorders result fr
 om inactivation of a protein-coding gene. But surprisingly\, we all carry 
 inactivated forms of about 100 of these genes without apparent ill-effects
 . Systematic large-scale surveys of the consequences of inactivating almos
 t all of genes are now under way. A large proportion of the rest of the ge
 nome influences gene expression\, and the levels of variation in different
  classes of non-coding elements are beginning to provide information about
  the functional importance of this diverse and poorly-understood section o
 f our genome. In addition\, contrasting humans with other great apes revea
 ls how exceptional humans are in their large numbers\, wide geographical d
 istribution and low but relatively uniform levels of genetic variation. Co
 mparisons of patterns of variation in people from different continents sug
 gests that these human characteristics are a consequence of an evolutionar
 ily-recent expansion of modern humans 50-100 thousand years ago from a sma
 ll population in Africa\, and these patterns provide information about bot
 h the demographic changes and some of the adaptations to local environment
 s that have accompanied this massive expansion.\n
LOCATION:Hodgkin Huxley Seminar Room\, Physiology Building\, Downing Site
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