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Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family

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

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 similar to 360-kbp locus in six primate lineages, including multiple human ...

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