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Bioinformatics, informatics

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https://www.readbyqxmd.com/read/29677992/biomedical-informatics-how-to-choose-the-best-tool-for-each-task
#1
Fábio Maia, Luís Bastião Silva, José Luís Oliveira
The ever-increasing number of bioinformatics software tools that are publicly available, is leading to greater expectations about its regular use in clinical practice. However, from the end-users' perspective, they face many time the challenge of choosing the right tool for each task, from a panoply of solutions that have been developed over the years. In this paper, we propose a benchmarking methodology, based on a set of performance indicators, which can be used to identify the best methods and tools for each particular use case, both in research as in clinical practice...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29653352/online-molecular-image-repository-and-analysis-system-a-multicenter-collaborative-open-source-infrastructure-for-molecular-imaging-research-and-application
#2
Mahabubur Rahman, Hiroshi Watabe
Molecular imaging serves as an important tool for researchers and clinicians to visualize and investigate complex biochemical phenomena using specialized instruments; these instruments are either used individually or in combination with targeted imaging agents to obtain images related to specific diseases with high sensitivity, specificity, and signal-to-noise ratios. However, molecular imaging, which is a multidisciplinary research field, faces several challenges, including the integration of imaging informatics with bioinformatics and medical informatics, requirement of reliable and robust image analysis algorithms, effective quality control of imaging facilities, and those related to individualized disease mapping, data sharing, software architecture, and knowledge management...
April 4, 2018: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29539190/mseqdr-mvtool-a-mitochondrial-dna-web-and-api-resource-for-comprehensive-variant-annotation-universal-nomenclature-collation-and-reference-genome-conversion
#3
Lishuang Shen, Marcella Attimonelli, Renkui Bai, Marie T Lott, Douglas C Wallace, Marni J Falk, Xiaowu Gai
Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency data. Clinicians need a simple bioinformatics tool that is user-friendly, and bioinformaticians need a powerful informatics resource for programmatic usage. Here, we report the development and functionality of the MSeqDR mtDNA Variant Tool set (mvTool), a one-stop mtDNA variant annotation and analysis web service...
March 14, 2018: Human Mutation
https://www.readbyqxmd.com/read/29515813/cloud-based-adaptive-exon-prediction-for-dna-analysis
#4
Srinivasareddy Putluri, Md Zia Ur Rahman, Shaik Yasmeen Fathima
Cloud computing offers significant research and economic benefits to healthcare organisations. Cloud services provide a safe place for storing and managing large amounts of such sensitive data. Under conventional flow of gene information, gene sequence laboratories send out raw and inferred information via Internet to several sequence libraries. DNA sequencing storage costs will be minimised by use of cloud service. In this study, the authors put forward a novel genomic informatics system using Amazon Cloud Services, where genomic sequence information is stored and accessed for processing...
February 2018: Healthcare Technology Letters
https://www.readbyqxmd.com/read/29475039/genes-and-micrornas-associated-with-mouse-cleft-palate-a-systematic-review-and-bioinformatics-analysis
#5
Akiko Suzuki, Nada Abdallah, Mona Gajera, Goo Jun, Peilin Jia, Zhongming Zhao, Junichi Iwata
Cleft palate (CP) is the most prevalent craniofacial deformity, with ethnic and geographic variation in prevalence in humans. Mice have been used as an animal model to study the cause(s) of CP by several approaches, including genetic and chemical-induced approaches. Mouse genetic approaches revealed that significant amounts of genes are involved in the CP pathology. The aim of this study was to identify common features of CP-associated genes and to explore the roles of microRNAs (miRNAs) as important post-transcriptional regulators that may be involved in the regulation of CP genes...
February 20, 2018: Mechanisms of Development
https://www.readbyqxmd.com/read/29435179/identifying-characteristic-mirnas-genes-and-risk-pathways-of-multiple-sclerosis-based-on-bioinformatics-analysis
#6
Deling Luo, Jin Fu
Multiple sclerosis is a chronic autoimmune disorder of the central nervous system. In MS, the genetic susceptibility is high and currently there is no effective treatment. MicroRNA, a small non-coding RNA, plays a vital role in immune responses. Aberrant or dysfunctional miRNAs may cause several diseases, including MS, thus miRNAs and miRNA related genes may be therapeutic weapons against MS. Here, we identified 21 miRNAs in peripheral blood mono-nuclear cells from over 600 persons, including healthy controls...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29419817/investigation-of-the-spatial-structure-and-interactions-of-the-genome-at-sub-kilobase-pair-resolution-using-t2c
#7
Petros Kolovos, Rutger W W Brouwer, Christel E M Kockx, Michael Lesnussa, Nick Kepper, Jessica Zuin, A M Ali Imam, Harmen J G van de Werken, Kerstin S Wendt, Tobias A Knoch, Wilfred F J van IJcken, Frank Grosveld
Chromosome conformation capture (3C) and its derivatives (e.g., 4C, 5C and Hi-C) are used to analyze the 3D organization of genomes. We recently developed targeted chromatin capture (T2C), an inexpensive method for studying the 3D organization of genomes, interactomes and structural changes associated with gene regulation, the cell cycle, and cell survival and development. Here, we present the protocol for T2C based on capture, describing all experimental steps and bio-informatic tools in full detail. T2C offers high resolution, a large dynamic interaction frequency range and a high signal-to-noise ratio...
March 2018: Nature Protocols
https://www.readbyqxmd.com/read/29385081/disseminating-metaproteomic-informatics-capabilities-and-knowledge-using-the-galaxy-p-framework
#8
Clemens Blank, Caleb Easterly, Bjoern Gruening, James Johnson, Carolin A Kolmeder, Praveen Kumar, Damon May, Subina Mehta, Bart Mesuere, Zachary Brown, Joshua E Elias, W Judson Hervey, Thomas McGowan, Thilo Muth, Brook Nunn, Joel Rudney, Alessandro Tanca, Timothy J Griffin, Pratik D Jagtap
The impact of microbial communities, also known as the microbiome, on human health and the environment is receiving increased attention. Studying translated gene products (proteins) and comparing metaproteomic profiles may elucidate how microbiomes respond to specific environmental stimuli, and interact with host organisms. Characterizing proteins expressed by a complex microbiome and interpreting their functional signature requires sophisticated informatics tools and workflows tailored to metaproteomics. Additionally, there is a need to disseminate these informatics resources to researchers undertaking metaproteomic studies, who could use them to make new and important discoveries in microbiome research...
January 31, 2018: Proteomes
https://www.readbyqxmd.com/read/29363432/a-bioinformatics-potpourri
#9
EDITORIAL
Christian Schönbach, Jinyan Li, Lan Ma, Paul Horton, Muhammad Farhan Sjaugi, Shoba Ranganathan
The 16th International Conference on Bioinformatics (InCoB) was held at Tsinghua University, Shenzhen from September 20 to 22, 2017. The annual conference of the Asia-Pacific Bioinformatics Network featured six keynotes, two invited talks, a panel discussion on big data driven bioinformatics and precision medicine, and 66 oral presentations of accepted research articles or posters. Fifty-seven articles comprising a topic assortment of algorithms, biomolecular networks, cancer and disease informatics, drug-target interactions and drug efficacy, gene regulation and expression, imaging, immunoinformatics, metagenomics, next generation sequencing for genomics and transcriptomics, ontologies, post-translational modification, and structural bioinformatics are the subject of this editorial for the InCoB2017 supplement issues in BMC Genomics, BMC Bioinformatics, BMC Systems Biology and BMC Medical Genomics...
January 19, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29316298/improving-the-safety-assessment-of-chemicals-and-drug-candidates-by-the-integration-of-bioinformatics-and-chemoinformatics-data
#10
REVIEW
Thomas Steger-Hartmann, Francois Pognan
The application of read-across and in silico tools for regulatory decision-making has been limited for pharmaceutical compounds to the assessment of genotoxic impurity. In contrast, the broad availability of toxicity data for industrial chemicals has triggered regulatory frameworks for read-across (e.g. ECHA Read-Across Assessment Framework), software tools and public databases for an automated process of gap filling in the context of safety assessment. This MiniReview provides an overview of the currently existing in silico and read-across approaches for chemicals together with recent developments for pharmaceutical compounds in these areas...
January 7, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29234465/ten-quick-tips-for-machine-learning-in-computational-biology
#11
REVIEW
Davide Chicco
Machine learning has become a pivotal tool for many projects in computational biology, bioinformatics, and health informatics. Nevertheless, beginners and biomedical researchers often do not have enough experience to run a data mining project effectively, and therefore can follow incorrect practices, that may lead to common mistakes or over-optimistic results. With this review, we present ten quick tips to take advantage of machine learning in any computational biology context, by avoiding some common errors that we observed hundreds of times in multiple bioinformatics projects...
2017: BioData Mining
https://www.readbyqxmd.com/read/29226722/the-use-of-databases-data-mining-and-immunoinformatics-in-vaccinology-where-are-we
#12
Nagendra R Hegde, S Gauthami, H M Sampath Kumar, Jagadeesh Bayry
Vaccinology has evolved from a sub-discipline focussed on simplistic vaccine development based on antibody-mediated protection to a separate discipline involving epidemiology, host and pathogen biology, immunology, genomics, proteomics, structure biology, protein engineering, chemical biology, and delivery systems. Data mining in combination with bioinformatics has provided a scaffold linking all these disciplines to the design of vaccines and vaccine adjuvants. Areas covered: This review provides background knowledge on immunological aspects which have been exploited with informatics for the in silico analysis of immune responses and the design of vaccine antigens...
February 2018: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/29226007/houston-methodist-variant-viewer-an-application-to-support-clinical-laboratory-interpretation-of-next-generation-sequencing-data-for-cancer
#13
Paul A Christensen, Yunyun Ni, Feifei Bao, Heather L Hendrickson, Michael Greenwood, Jessica S Thomas, S Wesley Long, Randall J Olsen
Introduction: Next-generation-sequencing (NGS) is increasingly used in clinical and research protocols for patients with cancer. NGS assays are routinely used in clinical laboratories to detect mutations bearing on cancer diagnosis, prognosis and personalized therapy. A typical assay may interrogate 50 or more gene targets that encompass many thousands of possible gene variants. Analysis of NGS data in cancer is a labor-intensive process that can become overwhelming to the molecular pathologist or research scientist...
2017: Journal of Pathology Informatics
https://www.readbyqxmd.com/read/29191560/msbis-a-multi-step-biomedical-informatics-screening-approach-for-identifying-medications-that-mitigate-the-risks-of-metoclopramide-induced-tardive-dyskinesia
#14
Dong Xu, Alexandrea G Ham, Rickey D Tivis, Matthew L Caylor, Aoxiang Tao, Steve T Flynn, Peter J Economen, Hung K Dang, Royal W Johnson, Vaughn L Culbertson
In 2009 the U.S. Food and Drug Administration (FDA) placed a black box warning on metoclopramide (MCP) due to the increased risks and prevalence of tardive dyskinesia (TD). In this study, we developed a multi-step biomedical informatics screening (MSBIS) approach leveraging publicly available bioactivity and drug safety data to identify concomitant drugs that mitigate the risks of MCP-induced TD. MSBIS includes (1) TargetSearch (http://dxulab.org/software) bioinformatics scoring for drug anticholinergic activity using CHEMBL bioactivity data; (2) unadjusted odds ratio (UOR) scoring for indications of TD-mitigating effects using the FDA Adverse Event Reporting System (FAERS); (3) adjusted odds ratio (AOR) re-scoring by removing the effect of cofounding factors (age, gender, reporting year); (4) logistic regression (LR) coefficient scoring for confirming the best TD-mitigating drug candidates...
December 2017: EBioMedicine
https://www.readbyqxmd.com/read/29177666/computational-analysis-of-the-chaperone-interaction-networks
#15
Ashwani Kumar, Kamran Rizzolo, Sandra Zilles, Mohan Babu, Walid A Houry
We provide computational protocols to identify chaperone interacting proteins using a combination of both physical (protein-protein) and genetic (gene-gene or epistatic) interaction data derived from the published large-scale proteomic and genomic studies for the budding yeast Saccharomyces cerevisiae. Using these datasets, we discuss bioinformatic analyses that can be employed to build comprehensive high-fidelity chaperone interaction networks. Given that many proteins typically function as complexes in the cell, we highlight various step-wise approaches for combining both the genetic and physical interaction datasets to decipher intra- and inter-connections for distinct chaperone- and non-chaperone-containing complexes in the network...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29154853/standards-and-guidelines-for-validating-next-generation-sequencing-bioinformatics-pipelines-a-joint-recommendation-of-the-association-for-molecular-pathology-and-the-college-of-american-pathologists
#16
REVIEW
Somak Roy, Christopher Coldren, Arivarasan Karunamurthy, Nefize S Kip, Eric W Klee, Stephen E Lincoln, Annette Leon, Mrudula Pullambhatla, Robyn L Temple-Smolkin, Karl V Voelkerding, Chen Wang, Alexis B Carter
Bioinformatics pipelines are an integral component of next-generation sequencing (NGS). Processing raw sequence data to detect genomic alterations has significant impact on disease management and patient care. Because of the lack of published guidance, there is currently a high degree of variability in how members of the global molecular genetics and pathology community establish and validate bioinformatics pipelines. Improperly developed, validated, and/or monitored pipelines may generate inaccurate results that may have negative consequences for patient care...
January 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29136101/identification-of-topological-features-in-renal-tumor-microenvironment-associated-with-patient-survival
#17
Jun Cheng, Xiaokui Mo, Xusheng Wang, Anil Parwani, Qianjin Feng, Kun Huang
Motivation: As a highly heterogeneous disease, the progression of tumor is not only achieved by unlimited growth of the tumor cells, but also supported, stimulated, and nurtured by the microenvironment around it. However traditional qualitative and/or semi-quantitative parameters obtained by pathologist's visual examination have very limited capability to capture this interaction between tumor and its microenvironment. With the advent of digital pathology, computerized image analysis may provide a better tumor characterization and give new insights into this problem...
November 9, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29092930/developing-cancer-informatics-applications-and-tools-using-the-nci-genomic-data-commons-api
#18
Shane Wilson, Michael Fitzsimons, Martin Ferguson, Allison Heath, Mark Jensen, Josh Miller, Mark W Murphy, James Porter, Himanso Sahni, Louis Staudt, Yajing Tang, Zhining Wang, Christine Yu, Junjun Zhang, Vincent Ferretti, Robert L Grossman
The NCI Genomic Data Commons (GDC) was launched in 2016 and makes available over 4 petabytes (PB) of cancer genomic and associated clinical data to the research community. This dataset continues to grow and currently includes over 14,500 patients. The GDC is an example of a biomedical data commons, which collocates biomedical data with storage and computing infrastructure and commonly used web services, software applications, and tools to create a secure, interoperable, and extensible resource for researchers...
November 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/29063563/findings-from-the-section-on-bioinformatics-and-translational-informatics
#19
H Dauchel, T Lecroq
Objective: To summarize excellent current research and propose a selection of best papers published in 2016 in the field of Bioinformatics and Translational Informatics with applications in the health domain and clinical care. Methods: We provide a synopsis of the articles selected for the IMIA Yearbook 2017, from which we attempt to derive a synthetic overview of current and future activities in the field. As in 2016, a first step of selection was performed by querying MEDLINE with a list of MeSH descriptors completed by a list of terms adapted to the section coverage...
August 2017: Yearbook of Medical Informatics
https://www.readbyqxmd.com/read/29054270/the-peptidome-comes-of-age-mass-spectrometry-based-characterization-of-the-circulating-cancer-peptidome
#20
David W Greening, Eugene A Kapp, Richard J Simpson
Peptides play a seminal role in most physiological processes acting as neurotransmitters, hormones, antibiotics, and immune regulation. In the context of tumor biology, it is hypothesized that endogenous peptides, hormones, cytokines, growth factors, and aberrant degradation of select protein networks (e.g., enzymatic activities, protein shedding, and extracellular matrix remodeling) are fundamental in mediating cancer progression. Analysis of peptides in biological fluids by mass spectrometry holds promise of providing sensitive and specific diagnostic and prognostic information for cancer and other diseases...
2017: Enzymes
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