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. © The Author(s) 2011. Published by Oxford University Press.
Bioinformatics challenges for personalized medicine / Fernald, Guy Haskin; Capriotti, Emidio; Daneshjou, Roxana; Karczewski, Konrad J.; Altman, Russ B.. - In: BIOINFORMATICS. - ISSN 1367-4803. - STAMPA. - 27:13(2011), pp. btr295.1741-btr295.1748. [10.1093/bioinformatics/btr295]
Bioinformatics challenges for personalized medicine
CAPRIOTTI, EMIDIO;
2011
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. © The Author(s) 2011. Published by Oxford University Press.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
