Journal
BIOINFORMATICS
Volume 27, Issue 13, Pages 1741-1748Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btr295
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Funding
- NIH [LM007033]
- Stanford Medical Scholars
- Marie Curie International Outgoing Fellowship [PIOF-GA-2009-237225]
- NIH/NIGMS Pharmacogenetics Research Network and Database
- PharmGKB resource (NIH) [U01GM61374]
- [LM05652]
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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.
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