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

Bioinformatics challenges for personalized medicine.

Fernald GH¹, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB.

Author information

1: Biomedical Informatics Training Program, Stanford University School of Medicine, Department of Bioengineering, Stanford University, Stanford, CA, USA.

Erratum in

Bioinformatics. 2011 Aug 15;27(16):2323.

Abstract

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.