Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration
Investigative Ophthalmology & Visual Science2017Vol. 58(3), pp. 1570–1570
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Perciliz L. Tan, Melanie E. Garrett, Jason R. Willer, Peter A. Campochiaro, Betsy Campochiaro, Donald J. Zack, Allison E. Ashley‐Koch, Nicholas Katsanis
Abstract
Taken together, our data argue that multiple rare and ultra-rare alleles in CFI contribute to AMD pathogenesis; they improve the precision of the assessment of the contribution of CFI to AMD; and they offer a rational route to establishing both causality and direction of allele effect for genes associated with this disorder.
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