Literature DB >> 26293864

Bioinformatics Methods and Tools to Advance Clinical Care. Findings from the Yearbook 2015 Section on Bioinformatics and Translational Informatics.

L F Soualmia1, T Lecroq.   

Abstract

OBJECTIVES: To summarize excellent current research in the field of Bioinformatics and Translational Informatics with application in the health domain and clinical care.
METHOD: We provide a synopsis of the articles selected for the IMIA Yearbook 2015, from which we attempt to derive a synthetic overview of current and future activities in the field. As last year, 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. Each section editor has evaluated separately the set of 1,594 articles and the evaluation results were merged for retaining 15 articles for peer-review.
RESULTS: The selection and evaluation process of this Yearbook's section on Bioinformatics and Translational Informatics yielded four excellent articles regarding data management and genome medicine that are mainly tool-based papers. In the first article, the authors present PPISURV a tool for uncovering the role of specific genes in cancer survival outcome. The second article describes the classifier PredictSNP which combines six performing tools for predicting disease-related mutations. In the third article, by presenting a high-coverage map of the human proteome using high resolution mass spectrometry, the authors highlight the need for using mass spectrometry to complement genome annotation. The fourth article is also related to patient survival and decision support. The authors present datamining methods of large-scale datasets of past transplants. The objective is to identify chances of survival.
CONCLUSIONS: The current research activities still attest the continuous convergence of Bioinformatics and Medical Informatics, with a focus this year on dedicated tools and methods to advance clinical care. Indeed, there is a need for powerful tools for managing and interpreting complex, large-scale genomic and biological datasets, but also a need for user-friendly tools developed for the clinicians in their daily practice. All the recent research and development efforts contribute to the challenge of impacting clinically the obtained results towards a personalized medicine.

Entities:  

Keywords:  Translational medical research; computational biology; gene expression; genome; medical informatics

Mesh:

Substances:

Year:  2015        PMID: 26293864      PMCID: PMC4587032          DOI: 10.15265/IY-2015-026

Source DB:  PubMed          Journal:  Yearb Med Inform        ISSN: 0943-4747


  26 in total

1.  A translational engine at the national scale: informatics for integrating biology and the bedside.

Authors:  Isaac S Kohane; Susanne E Churchill; Shawn N Murphy
Journal:  J Am Med Inform Assoc       Date:  2011-11-10       Impact factor: 4.497

2.  A methylome-wide study of aging using massively parallel sequencing of the methyl-CpG-enriched genomic fraction from blood in over 700 subjects.

Authors:  Joseph L McClay; Karolina A Aberg; Shaunna L Clark; Srilaxmi Nerella; Gaurav Kumar; Lin Y Xie; Alexandra D Hudson; Aki Harada; Christina M Hultman; Patrik K E Magnusson; Patrick F Sullivan; Edwin J C G Van Den Oord
Journal:  Hum Mol Genet       Date:  2013-10-16       Impact factor: 6.150

3.  Toward a formalization of the process to select IMIA Yearbook best papers.

Authors:  J-B Lamy; B Séroussi; N Griffon; G Kerdelhué; M-C Jaulent; J Bouaud
Journal:  Methods Inf Med       Date:  2014-11-14       Impact factor: 2.176

4.  A practical data processing workflow for multi-OMICS projects.

Authors:  Michael Kohl; Dominik A Megger; Martin Trippler; Hagen Meckel; Maike Ahrens; Thilo Bracht; Frank Weber; Andreas-Claudius Hoffmann; Hideo A Baba; Barbara Sitek; Jörg F Schlaak; Helmut E Meyer; Christian Stephan; Martin Eisenacher
Journal:  Biochim Biophys Acta       Date:  2013-03-15

Review 5.  Managing large-scale genomic datasets and translation into clinical practice.

Authors:  T Lecroq; L F Soualmia
Journal:  Yearb Med Inform       Date:  2014-08-15

6.  Mass-spectrometry-based draft of the human proteome.

Authors:  Mathias Wilhelm; Judith Schlegl; Hannes Hahne; Amin Moghaddas Gholami; Marcus Lieberenz; Mikhail M Savitski; Emanuel Ziegler; Lars Butzmann; Siegfried Gessulat; Harald Marx; Toby Mathieson; Simone Lemeer; Karsten Schnatbaum; Ulf Reimer; Holger Wenschuh; Martin Mollenhauer; Julia Slotta-Huspenina; Joos-Hendrik Boese; Marcus Bantscheff; Anja Gerstmair; Franz Faerber; Bernhard Kuster
Journal:  Nature       Date:  2014-05-29       Impact factor: 49.962

7.  Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing.

Authors:  Rebecca J Leary; Mark Sausen; Isaac Kinde; Nickolas Papadopoulos; John D Carpten; David Craig; Joyce O'Shaughnessy; Kenneth W Kinzler; Giovanni Parmigiani; Bert Vogelstein; Luis A Diaz; Victor E Velculescu
Journal:  Sci Transl Med       Date:  2012-11-28       Impact factor: 17.956

Review 8.  From genome sequencing to bedside. Findings from the section on bioinformatics and translational informatics.

Authors:  T Lecroq; L F Soualmia
Journal:  Yearb Med Inform       Date:  2013

9.  A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.

Authors:  Peter Tarczy-Hornoch; Laura Amendola; Samuel J Aronson; Levi Garraway; Stacy Gray; Robert W Grundmeier; Lucia A Hindorff; Gail Jarvik; Dean Karavite; Matthew Lebo; Sharon E Plon; Eliezer Van Allen; Karen E Weck; Peter S White; Yaping Yang
Journal:  Genet Med       Date:  2013-09-26       Impact factor: 8.822

10.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

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  1 in total

Review 1.  Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations.

Authors:  Abdellah Tebani; Carlos Afonso; Stéphane Marret; Soumeya Bekri
Journal:  Int J Mol Sci       Date:  2016-09-14       Impact factor: 5.923

  1 in total

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