133 research outputs found
Community Structure Characterization
This entry discusses the problem of describing some communities identified in
a complex network of interest, in a way allowing to interpret them. We suppose
the community structure has already been detected through one of the many
methods proposed in the literature. The question is then to know how to extract
valuable information from this first result, in order to allow human
interpretation. This requires subsequent processing, which we describe in the
rest of this entry
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype
© 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Background: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. Methods: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB- cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA. Results: We describe here an FA-B patient with a mild phenotype. The DEB diagnostic test for FA revealed somatic mosaicism. We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. A four bp homology (GTAG) present at both ends of the breakpoint is consistent with microhomology-mediated duplication mechanism. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*). Duplication levels in the peripheral blood DNA declined from 93% to 7.9% in the span of eleven years. Moreover, the patient fibroblasts have shown 8% of wild-type (WT) allele and his carrier mother showed higher than expected levels of WT allele (79% vs. 50%) in peripheral blood, suggesting that the duplication was highly unstable. Conclusion: Unlike sequence point variants, intragenic duplications are difficult to precisely define, accurately quantify, and may be very unstable, challenging the proper diagnosis. The reversion of genomic duplication to the WT allele results in somatic mosaicism and may explain the relatively milder phenotype displayed by the FA-B patient described here
Searching for network modules
When analyzing complex networks a key target is to uncover their modular
structure, which means searching for a family of modules, namely node subsets
spanning each a subnetwork more densely connected than the average. This work
proposes a novel type of objective function for graph clustering, in the form
of a multilinear polynomial whose coefficients are determined by network
topology. It may be thought of as a potential function, to be maximized, taking
its values on fuzzy clusterings or families of fuzzy subsets of nodes over
which every node distributes a unit membership. When suitably parametrized,
this potential is shown to attain its maximum when every node concentrates its
all unit membership on some module. The output thus is a partition, while the
original discrete optimization problem is turned into a continuous version
allowing to conceive alternative search strategies. The instance of the problem
being a pseudo-Boolean function assigning real-valued cluster scores to node
subsets, modularity maximization is employed to exemplify a so-called quadratic
form, in that the scores of singletons and pairs also fully determine the
scores of larger clusters, while the resulting multilinear polynomial potential
function has degree 2. After considering further quadratic instances, different
from modularity and obtained by interpreting network topology in alternative
manners, a greedy local-search strategy for the continuous framework is
analytically compared with an existing greedy agglomerative procedure for the
discrete case. Overlapping is finally discussed in terms of multiple runs, i.e.
several local searches with different initializations.Comment: 10 page
A meta-analysis of state-of-the-art electoral prediction from Twitter data
Electoral prediction from Twitter data is an appealing research topic. It
seems relatively straightforward and the prevailing view is overly optimistic.
This is problematic because while simple approaches are assumed to be good
enough, core problems are not addressed. Thus, this paper aims to (1) provide a
balanced and critical review of the state of the art; (2) cast light on the
presume predictive power of Twitter data; and (3) depict a roadmap to push
forward the field. Hence, a scheme to characterize Twitter prediction methods
is proposed. It covers every aspect from data collection to performance
evaluation, through data processing and vote inference. Using that scheme,
prior research is analyzed and organized to explain the main approaches taken
up to date but also their weaknesses. This is the first meta-analysis of the
whole body of research regarding electoral prediction from Twitter data. It
reveals that its presumed predictive power regarding electoral prediction has
been rather exaggerated: although social media may provide a glimpse on
electoral outcomes current research does not provide strong evidence to support
it can replace traditional polls. Finally, future lines of research along with
a set of requirements they must fulfill are provided.Comment: 19 pages, 3 table
Who is retweeting the tweeters? Modeling, originating, and promoting behaviors in the twitter network
Tweeting the Meeting: An In-Depth Analysis of Twitter Activity at Kidney Week 2011
In recent years, the American Society of Nephrology (ASN) has increased its efforts to use its annual conference to inform and educate the public about kidney disease. Social media, including Twitter, has been one method used by the Society to accomplish this goal. Twitter is a popular microblogging service that serves as a potent tool for disseminating information. It allows for short messages (140 characters) to be composed by any author and distributes those messages globally and quickly. The dissemination of information is necessary if Twitter is to be considered a tool that can increase public awareness of kidney disease. We hypothesized that content, citation, and sentiment analyses of tweets generated from Kidney Week 2011 would reveal a large number of educational tweets that were disseminated to the public. An ideal tweet for accomplishing this goal would include three key features: 1) informative content, 2) internal citations, and 3) positive sentiment score. Informative content was found in 29% of messages, greater than that found in a similarly sized medical conference (2011 ADA Conference, 16%). Informative tweets were more likely to be internally, rather than externally, cited (38% versus 22%, p<0.0001), thereby amplifying the original information to an even larger audience. Informative tweets had more negative sentiment scores than uninformative tweets (means −0.162 versus 0.199 respectively, p<0.0001), therefore amplifying a tweet whose content had a negative tone. Our investigation highlights significant areas of promise and improvement in using Twitter to disseminate medical information in nephrology from a scientific conference. This goal is pertinent to many nephrology-focused conferences that wish to increase public awareness of kidney disease
Real-time traffic event detection using Twitter data
Incident detection is an important component of intelligent transport systems and plays a key role in urban traffic management and provision of traveller information services. Due to its importance, a wide number of researchers have developed different algorithms for real-time incident detection. However, the main limitation of existing techniques is that they do not work well in conditions where random factors could influence traffic flows. Twitter is a valuable source of information as its users post events as they happen or shortly after. Therefore, Twitter data have been used to predict a wide variety of real-time outcomes. This paper aims to present a methodology for a real-time traffic event detection using Twitter. Tweets are obtained through the Twitter streaming application programming interface in real time with a geolocation filter. Then, the author used natural language processing techniques to process the tweets before they are fed into a text classification algorithm that identifies if it is traffic related or not. The authors implemented their methodology in the West Midlands region in the UK and obtained an overall accuracy of 92·86%
Prior knowledge based mining functional modules from Yeast PPI networks with gene ontology
<p>Abstract</p> <p>Background</p> <p>In the literature, there are fruitful algorithmic approaches for identification functional modules in protein-protein interactions (PPI) networks. Because of accumulation of large-scale interaction data on multiple organisms and non-recording interaction data in the existing PPI database, it is still emergent to design novel computational techniques that can be able to correctly and scalably analyze interaction data sets. Indeed there are a number of large scale biological data sets providing indirect evidence for protein-protein interaction relationships.</p> <p>Results</p> <p>The main aim of this paper is to present a prior knowledge based mining strategy to identify functional modules from PPI networks with the aid of Gene Ontology. Higher similarity value in Gene Ontology means that two gene products are more functionally related to each other, so it is better to group such gene products into one functional module. We study (i) to encode the functional pairs into the existing PPI networks; and (ii) to use these functional pairs as pairwise constraints to supervise the existing functional module identification algorithms. Topology-based modularity metric and complex annotation in MIPs will be used to evaluate the identified functional modules by these two approaches.</p> <p>Conclusions</p> <p>The experimental results on Yeast PPI networks and GO have shown that the prior knowledge based learning methods perform better than the existing algorithms.</p
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