A
A. C. Eugenia Saunders
Publications - 1
Citations - 1211
A. C. Eugenia Saunders is an academic researcher. The author has contributed to research in topics: Genome & Structural variation. The author has an hindex of 1, co-authored 1 publications receiving 1181 citations.
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Paired-end mapping reveals extensive structural variation in the human genome.
Jan O. Korbel,Alexander E. Urban,Jason P. Affourtit,Brian C. Godwin,Fabian Grubert,Jan Fredrik Simons,Philip M. Kim,Dean Palejev,Nicholas Carriero,Lei Du,Bruce E. Taillon,Zhoutao Chen,Andrea Tanzer,A. C. Eugenia Saunders,Jianxiang Chi,Fengtang Yang,Nigel P. Carter,Matthew E. Hurles,Sherman M. Weissman,Timothy T. Harkins,Mark Gerstein,Michael Egholm,Michael Snyder +22 more
TL;DR: High-throughput and massive paired-end mapping (PEM) was used to map SVs in an African and in a putatively European individual and identified shared and divergent SVs relative to the reference genome, documenting that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function.