Genome, and beyond. Findings from the section on bioinformatics.

ABSTRACT

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.