Bioinformatics challenges for personalized medicine

Bioinformatics. 2011 Jul 1;27(13):1741-8. doi: 10.1093/bioinformatics/btr295. Epub 2011 May 19.


Motivation: Widespread availability of low-cost, full genome sequencing will introduce new challenges for bioinformatics.

Results: This review outlines recent developments in sequencing technologies and genome analysis methods for application in personalized medicine. New methods are needed in four areas to realize the potential of personalized medicine: (i) processing large-scale robust genomic data; (ii) interpreting the functional effect and the impact of genomic variation; (iii) integrating systems data to relate complex genetic interactions with phenotypes; and (iv) translating these discoveries into medical practice.


Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / methods*
  • Genome-Wide Association Study
  • Human Genome Project*
  • Humans
  • Polymorphism, Single Nucleotide
  • Precision Medicine*