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Chunk #20 — Results — Application to GWAS

Source
Annotation of functional variation in personal genomes using RegulomeDB.
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Furthermore, the study authors further reduced the size of the risk haplotype to a 16.3-kb region through use of LD structure and conditional association analysis, which resulted in eight SNVs only one of which is assigned as putatively functional by RegulomeDB. This SNV is the same one that the study authors conclude to be the most likely functional polymorphism.