http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2768.html Replicative mechanisms for #CNV formation are error prone: CNVs associated with SNVs in 67 cases http://dx.doi.org/10.1038/ng.2768 MT @LeucineRichBio
Lupski paper
here are three more relevant papers about retroduplications :
http://www.nature.com/nmeth/journal/v9/n2/full/nmeth.1810.html http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003242 http://genomebiology.com/content/14/3/R22
http://genome.cshlp.org/content/21/12/2004.long
initial cnv eqtls
Paper giving a conceptual framework to somatic mosaicism
http://www.ncbi.nlm.nih.gov/PubMed/23176822Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation.
by Koren A, Polak P, Nemesh J, Michaelson JJ, Sebat J, Sunyaev SR, McCarroll SA on 11/28/12
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation.
Am J Hum Genet. 2012 Nov 20