Archive for the 'SciLit' Category
BMC Bioinformatics | Full text | BicSPAM: flexible biclustering using sequential patterns
August 31, 2014Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma
August 30, 2014#Singlecell #RNAseq highlights intratumoral heterogeneity http://www.sciencemag.org/content/344/6190/1396.abs Subtype classifiers variably expressed across indiv. cells
Patel AP(1), Tirosh I(2), Trombetta JJ(2), Shalek AK(2), Gillespie SM(3),
Wakimoto H(4), Cahill DP(4), Nahed BV(4), Curry WT(4), Martuza RL(4), Louis
DN(5), Rozenblatt-Rosen O(2), Suvà ML(6), Regev A(7), Bernstein BE(8).
Published Online June 12 2014
Science 20 June 2014:
Vol. 344 no. 6190 pp. 1396-1401
DOI: 10.1126/science.1254257
Big Data and Its Technical Challenges | July 2014 | Communications of the ACM
August 30, 2014#BigData & Its Technical Challenges
http://cacm.acm.org/magazines/2014/7/176204-big-data-and-its-technical-challenges/abstract Data acquisition, cleaning, aggregation, analysis, visualization & interpretation
IEEE Xplore Abstract – A Comparative Analysis of Ensemble Classifiers: Case Studies in Genomics
August 24, 2014Pandey 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
PLOS Biology: Where Do Introns Come From?
August 23, 2014Where 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.
"}}
BMC Bioinformatics | Full text | Comparing somatic mutation-callers: beyond Venn diagrams
August 19, 2014Comparing #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
Genome-scale functional characterization of Drosophila developmental enhancers in vivo : Nature : Nature Publishing Group
August 13, 2014Functional 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
August 11, 2014Transduction 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
August 9, 2014QT:{{”
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. “}}
linkstream2 microblog 