Archive for the ‘SciLit’ Category

Genome-scale functional characterization of Drosophila developmental enhancers in vivo : Nature : Nature Publishing Group

Wednesday, August 13th, 2014

Functional characterization of… developmental #enhancers in vivo: 3.5k of 7.7k tested active in fly embryo stages
http://www.nature.com/nature/journal/v512/n7512/abs/nature13395.html

Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

Monday, August 11th, 2014

Transduction of nonrepetitive DNA mediated by L1 retrotransposition in #cancer #genomes
http://www.sciencemag.org/content/345/6196/1251343.abs associated w/ hypomethylation

Jose M. C. Tubio1,
Yilong Li1,*,
Young Seok Ju1,*,
Inigo Martincorena1,
Susanna L. Cooke1,

Adrienne M. Flanagan30,31,
P. Andrew Futreal1,32,
Sam M. Janes3,
G. Steven Bova12,
Michael R. Stratton1,
Ultan McDermott1,
Peter J. Campbell1,10,33,‡

QT:{{”
Retrotransposons are DNA repeat sequences that are constantly on the move. By poaching certain cellular enzymes, they copy and insert themselves at new sites in the genome. Sometimes they carry along adjacent DNA sequences, a process called 3′ transduction. Tubio et al. found that 3′ transduction is a common event in human tumors. Because this process can scatter genes and regulatory sequences across the genome, it may represent yet another mechanism by which tumor cells acquire new mutations that help them survive and grow.
“}}

Single-Cell RNA-Seq Reveals Dynamic, Random Monoallelic Gene Expression in Mammalian Cells

Saturday, August 9th, 2014

QT:{{”
We discovered abundant (12 to 24%) monoallelic expression of autosomal genes and that expression of the two alleles occurs independently. The monoallelic expression appeared random and dynamic because there was considerable variation among closely related embryonic cells. “}}

PLOS Computational Biology: Target Essentiality and Centrality Characterize Drug Side Effects

Thursday, August 7th, 2014

Target Essentiality… Characterizes Drug Side Effects – much more so than the total number of targets for a #drug
http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.100311

Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Asso ciation” Principle

Thursday, August 7th, 2014

Inheritance Modes in… #Network Challenges… Guilt-by-Association http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710751 #Diseases of recessive interface SNVs predictable

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710751/

surprisingly, no positional effects on LOF mutations … significant proportion of truncation alleles give rise to functional products

“guilt by assoc works”

signif. number dom mut give rise to func products

Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate w ith Conserved or Catalytic Residues

Thursday, August 7th, 2014

Activating Mutations Cluster in… Regions of… #Kinases & Do Not Associate with Conserved or Catalytic Residues
http://onlinelibrary.wiley.com/doi/10.1002/humu.22493/abstract

related to Kin-Driver – a database of driver mutations, which can be used as a gold std in driver predictions

Is Sleep Essential?

Sunday, August 3rd, 2014

Is Sleep Essential?
http://www.plosbiology.org/article/info%3Adoi%2F10.1371%2Fjournal.pbio.0060216 Amusing evidence from varied animals, eg 1-hemisphere dolphin #sleep & dying sleep-deprived rats

less than 10 percent of the human genome is functional

Wednesday, July 30th, 2014

~8%

http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004525

‘Kardashian index’ in science

Wednesday, July 30th, 2014

A great article discussing the major issue of hyped social media presence:

“Social media makes it very easy for people to build a seemingly impressive persona by essentially ‘shouting louder’ than others. Having an opinion on something does not make one an expert.”

http://genomebiology.com/2014/15/7/424

In pursuit of design principles of regulatory sequences – Nat Rev Genet

Tuesday, July 29th, 2014

http://www.nature.com/nrg/journal/v15/n7/abs/nrg3684.html

In pursuit of design principles of regulatory sequences

Michal Levo & Eran Segal

Nature Reviews Genetics 15, 453–468 (2014) doi:10.1038/nrg3684

Ecker mentions: Design principles of regulatory sequences
http://www.nature.com/nrg/journal/v15/n7/abs/nrg3684.html … for schematics on how to follow up reg. variants #GSPfuture