Pandey mentions: Comparative Analysis of #Ensemble Classifiers [eg mean agg. or stacking]…in Genomics
http://ieeexplore.ieee.org/xpl/login.jsp?tp=&arnumber=6729565&url=http%3A%2F%2Fieeexplore.ieee.org%2Fxpls%2Fabs_all.jsp%3Farnumber%3D6729565 #kdd2014
performance-diversity tradeoff: should one incl. higher performance, lower diversity ones…. but still adding diversity is good
related to https://github.com/shwhalen/datasink
Where Do #Introns Come From? A suggestion: exons with premature stops; has implications for #pseudogene formation http://www.plosbiology.org/article/info%3Adoi%2F10.1371%2Fjournal.pbio.0060283
QT:{{
We have proposed a novel hypothesis for the origin of spliceosomal
introns, invoking endogenous production within translatable sequences
(at least in the case of protein-coding genes), facilitated by the
activity of cellular surveillance mechanisms. Despite the mutational
hazard associated with intron presence and proliferation [136], we
argue that, at least initially, introns might represent a favorable
life line for an allele that has acquired an ORF-disrupting mutation.
In this sense, in-frame stop codons need not be dead ends, as often
believed, but rather sequences that occasionally facilitate the
evolution of eukaryotic gene structure, possibly favoring not only
intronization, but also processes such as exonization (following a PTC
loss [137]). Further experimental validation of our hypothesis would
not only support the idea that intron birth/death rates depend on both
the population-genetic [136] and the intracellular environment, but
also shed light on a surprising aspect of the evolution of eukaryotic
gene structure, i.e., the ongoing, stochastic process of mutual
conversion between exons and introns within genes.
"}}
Comparing #somatic mutation-callers: beyond Venn
diagramshttp://www.biomedcentral.com/1471-2105/14/189 Moving from poor overlap of existing methods to metacallers
Meta caller developed based on multiple mutation callers calibrated by validation
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
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.
“}}
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. “}}
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
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… 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?
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
