Summary
Objectives
: To summarize excellent current research and propose a selection of best papers published
in 2015 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 2016, 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 1,566 articles and the evaluation results
were merged for retaining 14 articles for peer-review.
Results
: The selection and evaluation process of this Yearbook's section on Bioinformatics
and Translational Informatics yielded four excellent articles focusing this year on
data management of large-scale datasets and genomic medicine that are mainly new method-based
papers. Three articles explore the high potential of the re-analysis of previously
collected data, here from The Cancer Genome Atlas project (TCGA) and one article presents
an original analysis of genomic data from sub-Saharan Africa populations.
Conclusions
: The current research activities in Bioinformatics and Translational Informatics
with application in the health domain continues to explore new algorithms and statistical
models to manage and interpret large-scale genomic datasets. From population wide
genome sequencing for cataloging genomic variants to the comprehension of functional
impact on pathways and molecular interactions regarding a given pathology, making
sense of large genomic data requires a necessary effort to address the issue of clinical
translation for precise diagnostic and personalized medicine.
Keywords
Translational medical research - computational biology - gene genome expression -
genome, medical informatics