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2015 ; 24
(R1
): R111-9
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Strategies for fine-mapping complex traits
#MMPMID26157023
Spain SL
; Barrett JC
Hum Mol Genet
2015[Oct]; 24
(R1
): R111-9
PMID26157023
show ga
Genome-wide association studies (GWAS) have identified thousands of robust and
replicable genetic associations for complex disease. However, the identification
of the causal variants that underlie these associations has been more difficult.
This problem of fine-mapping association signals predates GWAS, but the last few
years have seen a surge of studies aimed at pinpointing causal variants using
both statistical evidence from large association data sets and functional
annotations of genetic variants. Combining these two approaches can often
determine not only the causal variant but also the target gene. Recent
contributions include analyses of custom genotyping arrays, such as the
Immunochip, statistical methods to identify credible sets of causal variants and
the addition of functional genomic annotations for coding and non-coding
variation to help prioritize variants and discern functional consequence and
hence the biological basis of disease risk.