Article
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Proceedings of the National Academy of Sciences of the United States of America - 8 May 2018
Cantsilieris Stuart, Nelson Bradley J, Huddleston John, Baker Carl, Harshman Lana, Penewit Kelsi, Munson Katherine M, Sorensen Melanie, Welch AnneMarie E, Dang Vy, Grassmann Felix, Richardson Andrea J, Guymer Robyn H, Graves-Lindsay Tina A, Wilson Richard K, Weber Bernhard H F, Baird Paul N, Allikmets Rando, Eichler Evan E
Abstract excerpt
Structural variation and single-nucleotide variation of the complement factor H (CFH) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS). To understand its diversity and evolution, we performed high-quality sequencing of this ∼360-kbp locus in six primate lineages, including multiple human haplotypes. Comparative...
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