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SUMMARY:Genome-wide association studies: in search of common and low frequ
 ency variants in complex traits - Ioanna Tachmazidou\, Sanger Institute
DTSTART:20160407T181500Z
DTEND:20160407T203000Z
UID:TALK59803@talks.cam.ac.uk
CONTACT:Peter Watson
DESCRIPTION:Genome-wide association studies (GWAS) have transformed the fi
 eld of complex trait genetics over the past 7 years. A number of scientifi
 c achievements made GWAS feasible\, for example the availability of large 
 sample sizes\, better understanding of human genome sequence variation\, h
 igh-throughput genotyping technologies\, and the development of methodolog
 ical and analytical approaches to analyze and interpret genetic data. Trad
 itionally\, GWAS have focused on common-frequency single nucleotide polymo
 rphisms (SNPs) (minor allele frequency (MAF) ≥ 0.05) and have typically 
 been powered to detect modest/small effect sizes. Genome-wide meta-analysi
 s\, facilitated by imputation of untyped genetic variants\, has been used 
 as a robust framework within which to synthesize data across studies and g
 enotyping platforms\, thus increasing power and leading to further novel d
 iscoveries.  Although these findings have improved our understanding of th
 e genetic basis of many complex traits\, for most traits they explain only
  a fraction of genetic heritability. This observation supports the long es
 tablished idea that low frequency and rare variants may play an important 
 role in common diseases. This hypothesis has caused a recent shift of the 
 complex trait genetics field towards low frequency (MAF between 0.01 and 0
 .05) and rare variation (MAF less than 0.01). In this talk\, I will introd
 uce key principles and analytical issues when conducting GWAS. I will also
  discuss current and impending extensions in the field of complex disease 
 genetics employing the next generation of chips\, whole genome sequencing\
 , and a wide array of populations.
LOCATION:Institute of Public Health\, University of Cambridge
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