Article
A comprehensive map of mobile element insertion polymorphisms in humans.
PLoS genetics - 1 Aug 2011
Stewart Chip, Kural Deniz, Strömberg Michael P, Walker Jerilyn A, Konkel Miriam K, Stütz Adrian M, Urban Alexander E, Grubert Fabian, Lam Hugo Y K, Lee Wan-Ping, Busby Michele, Indap Amit R, Garrison Erik, Huff Chad, Xing Jinchuan, Snyder Michael P, Jorde Lynn B, Batzer Mark A, Korbel Jan O, Marth Gabor T
Abstract excerpt
As a consequence of the accumulation of insertion events over evolutionary time, mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA mobile element families are still duplicating, generating variation between individual genomes. Mobile element insertions (MEI) have been identified as causes for genetic diseases, including hemophilia, neurofibromatosis, and various cancers. Here we...
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