scholarly journals Uncovering Proximity of Chromosome Territories using Classical Algebraic Statistics

2015 ◽  
Vol 6 (2) ◽  
Author(s):  
Javier Arsuaga ◽  
Ido Heskia ◽  
Serkan Hosten ◽  
Tatiana Maskalevich

Exchange type chromosome aberrations (ETCAs) are rearrangements of the genome that occur when chromosomes break and the resulting fragments rejoin with fragments from other chromosomes or from other regions within the same chromosome. ETCAs are commonly observed in cancer cells and in cells exposed to radiation. The frequency of these chromosome rearrangements is correlated with their spatial proximity, therefore it can be used to infer the three dimensional organization of the genome. Extracting statistical significance of spatial proximity from cancer and radiation data has remained somewhat elusive because of the sparsity of the data. We here propose a new approach to study the three dimensional organization of the genome using algebraic statistics. We test our method on a published data set of irradiated human blood lymphocyte cells. We provide a rigorous method for testing the overall organization of the genome, and in agreement with previous results we find a random relative positioning of chromosomes with the exception of the chromosome pairs {1,22} and {13,14} that have a significantly larger number of ETCAs than the rest of the chromosome pairs suggesting their spatial proximity. We conclude that algebraic methods can successfully be used to analyze genetic data and have potential applications to larger and more complex data sets. 

2017 ◽  
Vol 3 (5) ◽  
pp. e192 ◽  
Author(s):  
Corina Anastasaki ◽  
Stephanie M. Morris ◽  
Feng Gao ◽  
David H. Gutmann

Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of a glioma was analyzed in 37 participants with NF1 from one institution (Washington University School of Medicine [WUSM]) with a clinical diagnosis of NF1. Odds ratios (ORs) were calculated using both unadjusted and weighted analyses of this data set in combination with 4 previously published data sets.Results:While no statistical significance was observed between the location and type of the NF1 mutation and glioma in the WUSM cohort, power calculations revealed that a sample size of 307 participants would be required to determine the predictive value of the position or type of the NF1 gene mutation. Combining our data set with 4 previously published data sets (n = 310), children with glioma were found to be more likely to harbor 5′-end gene mutations (OR = 2; p = 0.006). Moreover, while not clinically predictive due to insufficient sensitivity and specificity, this association with glioma was stronger for participants with 5′-end truncating (OR = 2.32; p = 0.005) or 5′-end nonsense (OR = 3.93; p = 0.005) mutations relative to those without glioma.Conclusions:Individuals with NF1 and glioma are more likely to harbor nonsense mutations in the 5′ end of the NF1 gene, suggesting that the NF1 mutation may be one predictive factor for glioma in this at-risk population.


Author(s):  
Avinash Navlani ◽  
V. B. Gupta

In the last couple of decades, clustering has become a very crucial research problem in the data mining research community. Clustering refers to the partitioning of data objects such as records and documents into groups or clusters of similar characteristics. Clustering is unsupervised learning, because of unsupervised nature there is no unique solution for all problems. Most of the time complex data sets require explanation in multiple clustering sets. All the Traditional clustering approaches generate single clustering. There is more than one pattern in a dataset; each of patterns can be interesting in from different perspectives. Alternative clustering intends to find all unlike groupings of the data set such that each grouping has high quality and distinct from each other. This chapter gives you an overall view of alternative clustering; it's various approaches, related work, comparing with various confusing related terms like subspace, multi-view, and ensemble clustering, applications, issues, and challenges.


2011 ◽  
Vol 16 (3) ◽  
pp. 338-347 ◽  
Author(s):  
Anne Kümmel ◽  
Paul Selzer ◽  
Martin Beibel ◽  
Hanspeter Gubler ◽  
Christian N. Parker ◽  
...  

High-content screening (HCS) is increasingly used in biomedical research generating multivariate, single-cell data sets. Before scoring a treatment, the complex data sets are processed (e.g., normalized, reduced to a lower dimensionality) to help extract valuable information. However, there has been no published comparison of the performance of these methods. This study comparatively evaluates unbiased approaches to reduce dimensionality as well as to summarize cell populations. To evaluate these different data-processing strategies, the prediction accuracies and the Z′ factors of control compounds of a HCS cell cycle data set were monitored. As expected, dimension reduction led to a lower degree of discrimination between control samples. A high degree of classification accuracy was achieved when the cell population was summarized on well level using percentile values. As a conclusion, the generic data analysis pipeline described here enables a systematic review of alternative strategies to analyze multiparametric results from biological systems.


PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e5199
Author(s):  
Wanli Zhang ◽  
Yanming Di

The accumulation of RNA sequencing (RNA-Seq) gene expression data in recent years has resulted in large and complex data sets of high dimensions. Exploratory analysis, including data mining and visualization, reveals hidden patterns and potential outliers in such data, but is often challenged by the high dimensional nature of the data. The scatterplot matrix is a commonly used tool for visualizing multivariate data, and allows us to view multiple bivariate relationships simultaneously. However, the scatterplot matrix becomes less effective for high dimensional data because the number of bivariate displays increases quadratically with data dimensionality. In this study, we introduce a selection criterion for each bivariate scatterplot and design/implement an algorithm that automatically scan and rank all possible scatterplots, with the goal of identifying the plots in which separation between two pre-defined groups is maximized. By applying our method to a multi-experimentArabidopsisRNA-Seq data set, we were able to successfully pinpoint the visualization angles where genes from two biological pathways are the most separated, as well as identify potential outliers.


Author(s):  
Adam R. Richardson ◽  
Marvin J. Dainoff ◽  
Leonard S. Mark ◽  
James L. Smart ◽  
Niles Davis

This paper describes a research strategy in which complex data sets are represented as physical objects in a virtual 3-D environment. The advantage of such a representation is that it allows the observer to actively explore the virtual environment so that potential ambiguities found in typical 3-D projections could be resolved by the transformation resulting from the change in viewing perspective. The study reported here constitutes an initial condition in which subjects compared relative size of virtual cubes from two different viewpoints. These results can serve as a basis for construction of cube-like objects representing the underlying conceptual structure of a data set


2020 ◽  
Vol 501 (1) ◽  
pp. 994-1001
Author(s):  
Suman Sarkar ◽  
Biswajit Pandey ◽  
Snehasish Bhattacharjee

ABSTRACT We use an information theoretic framework to analyse data from the Galaxy Zoo 2 project and study if there are any statistically significant correlations between the presence of bars in spiral galaxies and their environment. We measure the mutual information between the barredness of galaxies and their environments in a volume limited sample (Mr ≤ −21) and compare it with the same in data sets where (i) the bar/unbar classifications are randomized and (ii) the spatial distribution of galaxies are shuffled on different length scales. We assess the statistical significance of the differences in the mutual information using a t-test and find that both randomization of morphological classifications and shuffling of spatial distribution do not alter the mutual information in a statistically significant way. The non-zero mutual information between the barredness and environment arises due to the finite and discrete nature of the data set that can be entirely explained by mock Poisson distributions. We also separately compare the cumulative distribution functions of the barred and unbarred galaxies as a function of their local density. Using a Kolmogorov–Smirnov test, we find that the null hypothesis cannot be rejected even at $75{{\ \rm per\ cent}}$ confidence level. Our analysis indicates that environments do not play a significant role in the formation of a bar, which is largely determined by the internal processes of the host galaxy.


2021 ◽  
Vol 22 (5) ◽  
pp. 2659
Author(s):  
Gianluca Costamagna ◽  
Giacomo Pietro Comi ◽  
Stefania Corti

In the last decade, different research groups in the academic setting have developed induced pluripotent stem cell-based protocols to generate three-dimensional, multicellular, neural organoids. Their use to model brain biology, early neural development, and human diseases has provided new insights into the pathophysiology of neuropsychiatric and neurological disorders, including microcephaly, autism, Parkinson’s disease, and Alzheimer’s disease. However, the adoption of organoid technology for large-scale drug screening in the industry has been hampered by challenges with reproducibility, scalability, and translatability to human disease. Potential technical solutions to expand their use in drug discovery pipelines include Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) to create isogenic models, single-cell RNA sequencing to characterize the model at a cellular level, and machine learning to analyze complex data sets. In addition, high-content imaging, automated liquid handling, and standardized assays represent other valuable tools toward this goal. Though several open issues still hamper the full implementation of the organoid technology outside academia, rapid progress in this field will help to prompt its translation toward large-scale drug screening for neurological disorders.


2011 ◽  
Vol 61 (2) ◽  
pp. 225-238 ◽  
Author(s):  
Wen Bo Liao ◽  
Zhi Ping Mi ◽  
Cai Quan Zhou ◽  
Ling Jin ◽  
Xian Han ◽  
...  

AbstractComparative studies of the relative testes size in animals show that promiscuous species have relatively larger testes than monogamous species. Sperm competition favours the evolution of larger ejaculates in many animals – they give bigger testes. In the view, we presented data on relative testis mass for 17 Chinese species including 3 polyandrous species. We analyzed relative testis mass within the Chinese data set and combining those data with published data sets on Japanese and African frogs. We found that polyandrous foam nesting species have relatively large testes, suggesting that sperm competition was an important factor affecting the evolution of relative testes size. For 4 polyandrous species testes mass is positively correlated with intensity (males/mating) but not with risk (frequency of polyandrous matings) of sperm competition.


Author(s):  
Abou_el_ela Abdou Hussein

Day by day advanced web technologies have led to tremendous growth amount of daily data generated volumes. This mountain of huge and spread data sets leads to phenomenon that called big data which is a collection of massive, heterogeneous, unstructured, enormous and complex data sets. Big Data life cycle could be represented as, Collecting (capture), storing, distribute, manipulating, interpreting, analyzing, investigate and visualizing big data. Traditional techniques as Relational Database Management System (RDBMS) couldn’t handle big data because it has its own limitations, so Advancement in computing architecture is required to handle both the data storage requisites and the weighty processing needed to analyze huge volumes and variety of data economically. There are many technologies manipulating a big data, one of them is hadoop. Hadoop could be understand as an open source spread data processing that is one of the prominent and well known solutions to overcome handling big data problem. Apache Hadoop was based on Google File System and Map Reduce programming paradigm. Through this paper we dived to search for all big data characteristics starting from first three V's that have been extended during time through researches to be more than fifty six V's and making comparisons between researchers to reach to best representation and the precise clarification of all big data V’s characteristics. We highlight the challenges that face big data processing and how to overcome these challenges using Hadoop and its use in processing big data sets as a solution for resolving various problems in a distributed cloud based environment. This paper mainly focuses on different components of hadoop like Hive, Pig, and Hbase, etc. Also we institutes absolute description of Hadoop Pros and cons and improvements to face hadoop problems by choosing proposed Cost-efficient Scheduler Algorithm for heterogeneous Hadoop system.


Author(s):  
Phillip L. Manning ◽  
Peter L. Falkingham

Dinosaurs successfully conjure images of lost worlds and forgotten lives. Our understanding of these iconic, extinct animals now comes from many disciplines, not just the science of palaeontology. In recent years palaeontology has benefited from the application of new and existing techniques from physics, biology, chemistry, engineering, but especially computational science. The application of computers in palaeontology is highlighted in this chapter as a key area of development in studying fossils. The advances in high performance computing (HPC) have greatly aided and abetted multiple disciplines and technologies that are now feeding paleontological research, especially when dealing with large and complex data sets. We also give examples of how such multidisciplinary research can be used to communicate not only specific discoveries in palaeontology, but also the methods and ideas, from interrelated disciplines to wider audiences. Dinosaurs represent a useful vehicle that can help enable wider public engagement, communicating complex science in digestible chunks.


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