Article
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.
Genome research - 1 May 2013
Montgomery Stephen B, Goode David L, Kvikstad Erika, Albers Cornelis A, Zhang Zhengdong D, Mu Xinmeng Jasmine, Ananda Guruprasad, Howie Bryan, Karczewski Konrad J, Smith Kevin S, Anaya Vanessa, Richardson Rhea, Davis Joe, MacArthur Daniel G, Sidow Arend, Duret Laurent, Gerstein Mark, Makova Kateryna D, Marchini Jonathan, McVean Gil, Lunter Gerton
Abstract excerpt
Short insertions and deletions (indels) are the second most abundant form of human genetic variation, but our understanding of their origins and functional effects lags behind that of other types of variants. Using population-scale sequencing, we have identified a high-quality set of 1.6 million indels from 179 individuals representing three diverse human populations. We show that rates of indel mutagenesis are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.