Article
Haplotype synthesis analysis reveals functional variants underlying known genome-wide associated susceptibility loci.
Bioinformatics (Oxford, England) - 15 Jul 2016
Lacour André, Ellinghaus David, Schreiber Stefan, Franke Andre, Becker Tim
Abstract excerpt
MOTIVATION: The functional mechanisms underlying disease association remain unknown for Genome-wide Association Studies (GWAS) susceptibility variants located outside coding regions. Synthesis of effects from multiple surrounding functional variants has been suggested as an explanation of hard-to-interpret findings. We define filter criteria based on linkage disequilibrium measures and allele frequencies which...
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