Findings from the Section on Bioinformatics and Translational Informatics
11 September 2017 (online)
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. Each section editor evaluated separately the set of 951 articles returned and evaluation results were merged for retaining 15 candidate best papers for peer-review.
Results: The selection and evaluation process of papers published in the Bioinformatics and Translational Informatics field yielded four excellent articles focusing this year on the secondary use and massive integration of multi-omics data for cancer genomics and non-cancer complex diseases. Papers present methods to study the functional impact of genetic variations, either at the level of the transcription or at the levels of pathway and network.
Conclusions: Current research activities in Bioinformatics and Translational Informatics with applications in the health domain continue to explore new algorithms and statistical models to manage, integrate, and interpret large-scale genomic datasets. As addressed by some of the selected papers, future trends would include the question of the international collaborative sharing of clinical and omics data, and the implementation of intelligent systems to enhance routine medical genomics.
Bioinformatics and Translational Informatics
Chen J, Rozowsky J, Galeev TR, Harmanci A, Kitchen R, Bedford J, Abyzov A, Kong Y, Regan L, Gerstein M. A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals. Nat Commun 2016 Apr 18;7:11101 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837449/
Marbach D, Lamparter D, Quon G, Kellis M, Kutalik Z, Bergmann S. Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases. Nat Methods 2016 Apr;13(4):366-70 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967716/
Zhang D, Chen P, Zheng CH, Xia J. Identification of ovarian cancer subtype-specific network modules and candidate drivers through an integrative genomics approach. Oncotarget 2016 Jan 26;7(4):4298-309 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826206/
Zhang, J, White, NM, Schmidt, HK, Fulton, RS, Tomlinson, C, Warren, WC, Wilson, RK, Maher, CA. INTEGRATE: gene fusion discovery using whole genome and transcriptome data. Genome Res 2016;26(1):108-18