Posts Tagged ‘sv’

Replicative mechanisms for CNV formation are error prone : Nature Genetics : Nature Publishing Group

Friday, October 11th, 2013

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

Papers about retroduplications (variable pseudogenes)

Friday, September 13th, 2013

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

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

Friday, April 19th, 2013

http://genome.cshlp.org/content/21/12/2004.long
initial cnv eqtls

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

Tuesday, April 9th, 2013

Paper giving a conceptual framework to somatic mosaicism

http://www.pnas.org/content/107/suppl.1/1725.full

Differential Relationship of DNA Replication Timing to Different Forms of Hu…

Saturday, December 1st, 2012

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