Genome, and beyond

Summary

Objectives

To summarize current excellent research in the field of bioinformatics, with an emphasis on those that have direct application in the medical domain.

Method

Synopsis of the articles selected for the IMIA Yearbook 2011.

Results

The selection process for this yearbook’s section on Bioinformatics results in six excellent articles highlighting the continuous progress towards a better understanding of human phenotype. Compared to the selection in Yearbook 2010, several key advancements can be noted. First, year 2010 marked the inaugural use of a complete human genome in a clinical context. This proof-of-principle study represents a large step towards personalized medicine. Second, there is a clear trend to understand diseases beyond the genome level, namely to include environmental and epigenetic information. Third, an innovative framework making use of the web to harness participant-driven genotype-phenotype information sets a new scene for conducting research in an era where social media plays an increasingly important role.

Conclusions

The current literature showed that all pieces are now present to enable a much more comprehensive understanding of human diseases and traits, beyond the highly focused genetic or genomic studies seen previously.

Keywords

Bioinformatics - epigenetics - environment - human genome - phenotype

 

• References

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• 2 Ernst J, Kellis M. Discovery and characterization of chromatin states for systematic annotation of the human genome. Nat Biotechnol 2010; 28 (08) 817-27.
• 3 Zhang Z, Pugh BF. High-resolution genome-wide mapping of the primary structure of chromatin. Cell 2011; 144 (02) 175-86.
• 4 Patel CJ, Bhattacharya J, Butte AJ. An Environment-Wide Association Study (EWAS) on Type 2 Diabetes Mellitus. PLoS One 2010; 05 (05) e10746.
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• 11 Yip YL. Closing the genotype-phenotype gap. Findings from the Yearbook 2010 Section on Bioinformatics. Yearb Med Inform 2010; 82-5.
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• 13 Yip YL. The promise of systems biology in clinical applications. Findings from the Yearbook 2008 Section on Bioinformatics. Yearb Med Inform 2008; 102-4.
• 14 Fingerman IM, McDaniel L, Zhang X, Ratzat W, Hassan T, Jiang Z. et al. NCBI Epigenomics: a new public resource for exploring epigenomic data sets. Nucleic Acids Res 2011; 39 (Database issue): D908-D912.
• 15 Sansom C. The power of many. Nature biotechnology 2011; 29 (03) 201-3.