Bioinformatics challenges for personalized medicine

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...

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Veröffentlicht in:Bioinformatics 2011-07, Vol.27 (13), p.1741-1748
Hauptverfasser: Fernald, Guy Haskin, Capriotti, Emidio, Daneshjou, Roxana, Karczewski, Konrad J., Altman, Russ B.
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Sprache:eng
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Zusammenfassung: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. Contact: russ.altman@stanford.edu Supplementary information: Supplementary data are available at Bioinformatics online.
ISSN:1367-4803
1460-2059
1367-4811
DOI:10.1093/bioinformatics/btr295