ISAG Programme Abs Am.Indd
30 S0001 – S0016 Invited Speaker Abstracts INVITED SPEAKERS S0001–S0016 31 S0001 The power of comparative genetics and genomics S0004 Finding the causal variant in selective sweeps Kerstin Linbald-Toh. Elinor Karlsson. Broad Institute, USA; Uppsala University, Sweden. Broad Institute, Cambridge, MA, USA. The human genome contains hundreds of regions with patterns of genetic variation that refl ect recent, positive natural selection, yet for most the underlying gene and S0002 Using intra-species variation to understanding basic the advantageous mutation remain unknown. We have developed a method, the biology Composite of Multiple Signals (CMS), that, by combining multiple different tests for natural selection, increases our resolution by up to 100-fold. By applying CMS to the International Haplotype Map, we localize hundred signals, reducing the candidate Ewan Birney. region for each to just ~50-100kb. In many cases, we can identify the precise gene EMBL Outstation – Hinxton, European Bioinformatics Institute, Welcome Trust Genome and polymorphism targeted by selection. This includes genes involved in infectious Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom. disease susceptibility, skin pigment, metabolism, and hair and sweat. Nearly half Quantitative genetics based on large, outbred populations has had a long history in of the ~200 regions we localized contain no genes at all, and 13 contain long, non- both animal breeding and human disease studies. It is one of the few techniques coding RNAs, which can regulate nearby genes. In several regions we signifi cantly which one can apply to understand a complex phenotype when nothing else is known associate variants under selection with the expression of nearby genes.
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