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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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Detalles Bibliográficos
Autores principales: Fernald, Guy Haskin, Capriotti, Emidio, Daneshjou, Roxana, Karczewski, Konrad J., Altman, Russ B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117361/
https://www.ncbi.nlm.nih.gov/pubmed/21596790
http://dx.doi.org/10.1093/bioinformatics/btr295
Descripción
Sumario: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.