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Biobank Informatics: Connecting Genotypes and Phenotypes

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Methods in Biobanking

Part of the book series: Methods in Molecular Biology ((MIMB,volume 675))

Abstract

The sequencing of the human genome, completed at the dawn of the twenty-first century, allows researchers to integrate new data on genetic risk factors with demographic and lifestyle data collected via modern communication technologies. The technical prerequisites now exist for merging these cascades of molecular genetic information, not only to national health registers, but also to epidemiology and clinical data.

Long-term storage of biological materials and data is a critical component of any epidemiological or clinical study. In designing Biobanks, informatics plays a vital role for the handling of samples and data in a timely fashion. Biobank Informatics contains important elements concerning definition, structure, and standardization of information that has been gathered from a multitude of sources from population-based registries, biobanks, patient records, and from large-scale molecular measurements.

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Author information

Authors and Affiliations

  1. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

    Jan-Eric Litton

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  1. Jan-Eric Litton
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Correspondence to Jan-Eric Litton .

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Editors and Affiliations

  1. , Bio Banking and Molecular Resource, Karolinska Institutet, Stockholm, 205 02, Sweden

    Joakim Dillner

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Litton, JE. (2011). Biobank Informatics: Connecting Genotypes and Phenotypes. In: Dillner, J. (eds) Methods in Biobanking. Methods in Molecular Biology, vol 675. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59745-423-0_21

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  • DOI: https://doi.org/10.1007/978-1-59745-423-0_21

  • Published:

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-58829-995-6

  • Online ISBN: 978-1-59745-423-0

  • eBook Packages: Springer Protocols

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