On the reproducibility of results of pathway analysis in genome-wide expression studies of colorectal cancers.

Abstract:

:One of the major problems in genomics and medicine is the identification of gene networks and pathways deregulated in complex and polygenic diseases, like cancer. In this paper, we address the problem of assessing the variability of results of pathways analysis identified in different and independent genome wide expression studies, in which the same phenotypic conditions are assayed. To this end, we assessed the deregulation of 1891 curated gene sets in four independent gene expression data sets of subjects affected by colorectal cancer (CRC). In this comparison we used two well-founded statistical models for evaluating deregulation of gene networks. We found that the results of pathway analysis in expression studies are highly reproducible. Our study revealed 53 pathways identified by the two methods in all the four data sets analyzed with high statistical significance and strong biological relevance with the pathology examined. This set of pathways associated to single markers as well as to whole biological processes altered constitutes a signature of the disease which sheds light on the genetics bases of CRC.

journal_name

J Biomed Inform

authors

Maglietta R,Distaso A,Piepoli A,Palumbo O,Carella M,D'Addabbo A,Mukherjee S,Ancona N

doi

10.1016/j.jbi.2009.09.005

subject

Has Abstract

pub_date

2010-06-01 00:00:00

pages

397-406

issue

3

eissn

1532-0464

issn

1532-0480

pii

S1532-0464(09)00133-6

journal_volume

43

pub_type

杂志文章
  • Mining association language patterns using a distributional semantic model for negative life event classification.

    abstract:PURPOSE:Negative life events, such as the death of a family member, an argument with a spouse or the loss of a job, play an important role in triggering depressive episodes. Therefore, it is worthwhile to develop psychiatric services that can automatically identify such events. This study describes the use of associati...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2011.01.006

    authors: Yu LC,Chan CL,Lin CC,Lin IC

    更新日期:2011-08-01 00:00:00

  • Automatic detection of protected health information from clinic narratives.

    abstract::This paper presents a natural language processing (NLP) system that was designed to participate in the 2014 i2b2 de-identification challenge. The challenge task aims to identify and classify seven main Protected Health Information (PHI) categories and 25 associated sub-categories. A hybrid model was proposed which com...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2015.06.015

    authors: Yang H,Garibaldi JM

    更新日期:2015-12-01 00:00:00

  • Security and privacy in electronic health records: a systematic literature review.

    abstract:OBJECTIVE:To report the results of a systematic literature review concerning the security and privacy of electronic health record (EHR) systems. DATA SOURCES:Original articles written in English found in MEDLINE, ACM Digital Library, Wiley InterScience, IEEE Digital Library, Science@Direct, MetaPress, ERIC, CINAHL and...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章,评审

    doi:10.1016/j.jbi.2012.12.003

    authors: Fernández-Alemán JL,Señor IC,Lozoya PÁ,Toval A

    更新日期:2013-06-01 00:00:00

  • Predictive modeling of bacterial infections and antibiotic therapy needs in critically ill adults.

    abstract::Unnecessary antibiotic regimens in the intensive care unit (ICU) are associated with adverse patient outcomes and antimicrobial resistance. Bacterial infections (BI) are both common and deadly in ICUs, and as a result, patients with a suspected BI are routinely started on broad-spectrum antibiotics prior to having con...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2020.103540

    authors: Eickelberg G,Sanchez-Pinto LN,Luo Y

    更新日期:2020-09-01 00:00:00

  • A comparison of two methods for retrieving ICD-9-CM data: the effect of using an ontology-based method for handling terminology changes.

    abstract:OBJECTIVE:Most existing controlled terminologies can be characterized as collections of terms, wherein the terms are arranged in a simple list or organized in a hierarchy. These kinds of terminologies are considered useful for standardizing terms and encoding data and are currently used in many existing information sys...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2011.01.005

    authors: Yu AC,Cimino JJ

    更新日期:2011-04-01 00:00:00

  • HBLAST: Parallelised sequence similarity--A Hadoop MapReducable basic local alignment search tool.

    abstract::The recent exponential growth of genomic databases has resulted in the common task of sequence alignment becoming one of the major bottlenecks in the field of computational biology. It is typical for these large datasets and complex computations to require cost prohibitive High Performance Computing (HPC) to function....

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2015.01.008

    authors: O'Driscoll A,Belogrudov V,Carroll J,Kropp K,Walsh P,Ghazal P,Sleator RD

    更新日期:2015-04-01 00:00:00

  • A comparison of word embeddings for the biomedical natural language processing.

    abstract:BACKGROUND:Word embeddings have been prevalently used in biomedical Natural Language Processing (NLP) applications due to the ability of the vector representations being able to capture useful semantic properties and linguistic relationships between words. Different textual resources (e.g., Wikipedia and biomedical lit...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2018.09.008

    authors: Wang Y,Liu S,Afzal N,Rastegar-Mojarad M,Wang L,Shen F,Kingsbury P,Liu H

    更新日期:2018-11-01 00:00:00

  • Comparison with manual registration reveals satisfactory completeness and efficiency of a computerized cancer registration system.

    abstract::Automated software for cancer registration, called Open Registry and developed by ourselves was adopted by the Varese (population-based) Cancer Registry starting from 1997. Since the use of automated cancer registration is increasing, it is important to assess the quality and completeness of the automated data being p...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2007.03.003

    authors: Contiero P,Tittarelli A,Maghini A,Fabiano S,Frassoldi E,Costa E,Gada D,Codazzi T,Crosignani P,Tessandori R,Tagliabue G

    更新日期:2008-02-01 00:00:00

  • Does the use of structured reporting improve usability? A comparative evaluation of the usability of two approaches for findings reporting in a large-scale telecardiology context.

    abstract::One of the main reasons that leads to a low adoption rate of telemedicine systems is poor usability. An aspect that influences usability during the reporting of findings is the input mode, e.g., if a free-text (FT) or a structured report (SR) interface is employed. The objective of our study is to compare the usabilit...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2014.07.002

    authors: Lacerda TC,von Wangenheim CG,von Wangenheim A,Giuliano I

    更新日期:2014-12-01 00:00:00

  • Colorado Care Tablet: the design of an interoperable Personal Health Application to help older adults with multimorbidity manage their medications.

    abstract::Medication errors are common and cause serious health issues during care transitions, particularly for older adults with multiple chronic conditions. In this paper, we discuss the design and evaluation of the Colorado Care Tablet, a Personal Health Application (PHA) that helps older adults and their lay caregivers man...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2010.05.007

    authors: Siek KA,Ross SE,Khan DU,Haverhals LM,Cali SR,Meyers J

    更新日期:2010-10-01 00:00:00

  • In defense of the Desiderata.

    abstract::A 1998 paper that delineated desirable characteristics, or desiderata for controlled medical terminologies attempted to summarize emerging consensus regarding structural issues of such terminologies. Among the Desiderata was a call for terminologies to be "concept oriented." Since then, research has trended toward the...

    journal_title:Journal of biomedical informatics

    pub_type: 评论,杂志文章

    doi:10.1016/j.jbi.2005.11.008

    authors: Cimino JJ

    更新日期:2006-06-01 00:00:00

  • A Bayesian system to detect and characterize overlapping outbreaks.

    abstract::Outbreaks of infectious diseases such as influenza are a significant threat to human health. Because there are different strains of influenza which can cause independent outbreaks, and influenza can affect demographic groups at different rates and times, there is a need to recognize and characterize multiple outbreaks...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2017.08.003

    authors: Aronis JM,Millett NE,Wagner MM,Tsui F,Ye Y,Ferraro JP,Haug PJ,Gesteland PH,Cooper GF

    更新日期:2017-09-01 00:00:00

  • Virtualizing living and working spaces: Proof of concept for a biomedical space-replication methodology.

    abstract::The physical spaces within which the work of health occurs - the home, the intensive care unit, the emergency room, even the bedroom - influence the manner in which behaviors unfold, and may contribute to efficacy and effectiveness of health interventions. Yet the study of such complex workspaces is difficult. Health ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2015.07.007

    authors: Brennan PF,Ponto K,Casper G,Tredinnick R,Broecker M

    更新日期:2015-10-01 00:00:00

  • Using natural language processing to extract mammographic findings.

    abstract:OBJECTIVE:Structured data on mammographic findings are difficult to obtain without manual review. We developed and evaluated a rule-based natural language processing (NLP) system to extract mammographic findings from free-text mammography reports. MATERIALS AND METHODS:The NLP system extracted four mammographic findin...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2015.01.010

    authors: Gao H,Aiello Bowles EJ,Carrell D,Buist DS

    更新日期:2015-04-01 00:00:00

  • Knowledge-based automated planning system for StereoElectroEncephaloGraphy: A center-based scenario.

    abstract::Surgical planning for StereoElectroEncephaloGraphy (SEEG) is a complex and patient specific task, where the experience and medical workflow of each institution may influence the final planning choices. To account for this variability, we developed a data-based Computer Assisted Planning (CAP) solution able to exploit ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2020.103460

    authors: Scorza D,Rizzi M,De Momi E,Cortés C,Bertelsen Á,Cardinale F

    更新日期:2020-08-01 00:00:00

  • Monitoring Obstructive Sleep Apnea by means of a real-time mobile system based on the automatic extraction of sets of rules through Differential Evolution.

    abstract::Real-time Obstructive Sleep Apnea (OSA) episode detection and monitoring are important for society in terms of an improvement in the health of the general population and of a reduction in mortality and healthcare costs. Currently, to diagnose OSA patients undergo PolySomnoGraphy (PSG), a complicated and invasive test ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2014.02.015

    authors: Sannino G,De Falco I,De Pietro G

    更新日期:2014-06-01 00:00:00

  • Quality assurance of chemical ingredient classification for the National Drug File - Reference Terminology.

    abstract::The National Drug File - Reference Terminology (NDF-RT) is a large and complex drug terminology consisting of several classification hierarchies on top of an extensive collection of drug concepts. These hierarchies provide important information about clinical drugs, e.g., their chemical ingredients, mechanisms of acti...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2017.07.013

    authors: Zheng L,Yumak H,Chen L,Ochs C,Geller J,Kapusnik-Uner J,Perl Y

    更新日期:2017-09-01 00:00:00

  • Toward national comparable nurse practitioner data: proposed data elements, rationale, and methods.

    abstract::Federal funds have supported Nurse Practitioner (NP) education and the establishment of nurse-managed centers. Yet, important questions are raised about the quality and appropriate scope of NP care. Few NP-patient encounters are documented in the largest national surveys of ambulatory care, sponsored by the National C...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2003.09.016

    authors: Jenkins ML

    更新日期:2003-08-01 00:00:00

  • Predicting the function of transplanted kidney in long-term care processes: Application of a hybrid model.

    abstract:BACKGROUND:A tool that can predict the estimated glomerular filtration rate (eGFR) in routine daily care can help clinicians to make better decisions for kidney transplant patients and to improve transplantation outcome. In this paper, we proposed a hybrid prediction model for predicting a future value for eGFR during ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2019.103116

    authors: Rashidi Khazaee P,Bagherzadeh M J,Niazkhani Z,Pirnejad H

    更新日期:2019-03-01 00:00:00

  • BioLattice: a framework for the biological interpretation of microarray gene expression data using concept lattice analysis.

    abstract:MOTIVATION:A challenge in microarray data analysis is to interpret observed changes in terms of biological properties and relationships. One powerful approach is to make associations of gene expression clusters with biomedical ontologies and/or biological pathways. However, this approach evaluates only one cluster at a...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2007.10.003

    authors: Kim J,Chung HJ,Jung Y,Kim KK,Kim JH

    更新日期:2008-04-01 00:00:00

  • Prediction of influenza vaccination outcome by neural networks and logistic regression.

    abstract::The major challenge in influenza vaccination is to predict vaccine efficacy. The purpose of this study was to design a model to enable successful prediction of the outcome of influenza vaccination based on real historical medical data. A non-linear neural network approach was used, and its performance compared to logi...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2010.04.011

    authors: Trtica-Majnaric L,Zekic-Susac M,Sarlija N,Vitale B

    更新日期:2010-10-01 00:00:00

  • Continuous time Bayesian network classifiers.

    abstract::The class of continuous time Bayesian network classifiers is defined; it solves the problem of supervised classification on multivariate trajectories evolving in continuous time. The trajectory consists of the values of discrete attributes that are measured in continuous time, while the predicted class is expected to ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2012.07.002

    authors: Stella F,Amer Y

    更新日期:2012-12-01 00:00:00

  • Exploring the associations between drug side-effects and therapeutic indications.

    abstract::Drug therapeutic indications and side-effects are both measurable patient phenotype changes in response to the treatment. Inferring potential drug therapeutic indications and identifying clinically interesting drug side-effects are both important and challenging tasks. Previous studies have utilized either chemical st...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2014.03.014

    authors: Wang F,Zhang P,Cao N,Hu J,Sorrentino R

    更新日期:2014-10-01 00:00:00

  • Knowledge-based personalized search engine for the Web-based Human Musculoskeletal System Resources (HMSR) in biomechanics.

    abstract::Human musculoskeletal system resources of the human body are valuable for the learning and medical purposes. Internet-based information from conventional search engines such as Google or Yahoo cannot response to the need of useful, accurate, reliable and good-quality human musculoskeletal resources related to medical ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2012.11.001

    authors: Dao TT,Hoang TN,Ta XH,Tho MC

    更新日期:2013-02-01 00:00:00

  • Towards an on-demand peer feedback system for a clinical knowledge base: a case study with order sets.

    abstract:OBJECTIVE:We have developed an automated knowledge base peer feedback system as part of an effort to facilitate the creation and refinement of sound clinical knowledge content within an enterprise-wide knowledge base. The program collects clinical data stored in our Clinical Data Repository during usage of a physician ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2007.05.006

    authors: Hulse NC,Del Fiol G,Bradshaw RL,Roemer LK,Rocha RA

    更新日期:2008-02-01 00:00:00

  • Explorative data analysis techniques and unsupervised clustering methods to support clinical assessment of Chronic Obstructive Pulmonary Disease (COPD) phenotypes.

    abstract::Chronic Obstructive Pulmonary Disease (COPD) is the fourth leading cause of death worldwide and represents one of the major causes of chronic morbidity. Cigarette smoking is the most important risk factor for COPD. In these patients, the airflow limitation is caused by a mixture of small airways disease and parenchyma...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2009.05.008

    authors: Paoletti M,Camiciottoli G,Meoni E,Bigazzi F,Cestelli L,Pistolesi M,Marchesi C

    更新日期:2009-12-01 00:00:00

  • DEEPEN: A negation detection system for clinical text incorporating dependency relation into NegEx.

    abstract::In Electronic Health Records (EHRs), much of valuable information regarding patients' conditions is embedded in free text format. Natural language processing (NLP) techniques have been developed to extract clinical information from free text. One challenge faced in clinical NLP is that the meaning of clinical entities...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2015.02.010

    authors: Mehrabi S,Krishnan A,Sohn S,Roch AM,Schmidt H,Kesterson J,Beesley C,Dexter P,Max Schmidt C,Liu H,Palakal M

    更新日期:2015-04-01 00:00:00

  • Unleashing genotypes in epidemiology - A novel method for managing high throughput information.

    abstract::The large amounts of data generated when high-throughput genotyping methods are used in large-scale epidemiological studies (>10,000 participants) present an enormous challenge to researchers in terms of structured data management. In order to face these challenges, a system has been designed and implemented where gen...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2009.07.005

    authors: Olund G,Brinne A,Lindqvist P,Litton JE

    更新日期:2009-12-01 00:00:00

  • Feature selection techniques for maximum entropy based biomedical named entity recognition.

    abstract::Named entity recognition is an extremely important and fundamental task of biomedical text mining. Biomedical named entities include mentions of proteins, genes, DNA, RNA, etc which often have complex structures, but it is challenging to identify and classify such entities. Machine learning methods like CRF, MEMM and ...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2008.12.012

    authors: Saha SK,Sarkar S,Mitra P

    更新日期:2009-10-01 00:00:00

  • Enhancing phylogeography by improving geographical information from GenBank.

    abstract::Phylogeography is a field that focuses on the geographical lineages of species such as vertebrates or viruses. Here, geographical data, such as location of a species or viral host is as important as the sequence information extracted from the species. Together, this information can help illustrate the migration of the...

    journal_title:Journal of biomedical informatics

    pub_type: 杂志文章

    doi:10.1016/j.jbi.2011.06.005

    authors: Scotch M,Sarkar IN,Mei C,Leaman R,Cheung KH,Ortiz P,Singraur A,Gonzalez G

    更新日期:2011-12-01 00:00:00