http://genome.cshlp.org/content/21/12/2004.long
initial cnv eqtls
Archive for the 'SciLit' Category
Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions
April 19, 2013From pseudogenes to proteins
April 19, 2013Gencode perspective on massspec of pseudogenes
http://www.nature.com/nmeth/journal/v8/n6/full/nmeth0611-448b.html
metacyc/kegg comparison paper
April 12, 2013a detailed comparison of
MetaCyc versus KEGG:
MetaCyc contains more than 10 times as many metabolic pathways as KEGG “modules” (the comparable type of pathway in KEGG).
http://www.biomedcentral.com/1471-2105/14/112/abstract
Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration
April 9, 2013Paper giving a conceptual framework to somatic mosaicism
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
April 9, 2013Many denovo mutations in autism but few recurrant ones.
“Here they examined over 2000 probands and found only a handful of recurrent mutations…. Also In this article they mention a beta catenin-chromatin remodelling network that seems to encompass a majority of these genes”
