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CHDM researchers help to establish the role of rare alleles in age-related macular degeneration

March 06, 2017

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration: Genome-wide association (GWAS) and sequencing studies for AMD have highlighted the importance of coding variants at loci that encode components of the complement pathway. However, assessing the contribution of such alleles to AMD, especially when they are rare, remains coarse, in part because of the persistent challenge in establishing their functional relevance.​ Read the full article here,