Literature DB >> 20949402

Biobank informatics: connecting genotypes and phenotypes.

Jan-Eric Litton1.   

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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Year:  2011        PMID: 20949402     DOI: 10.1007/978-1-59745-423-0_21

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  6 in total

1.  Comprehensive catalog of European biobanks.

Authors:  H-Erich Wichmann; Klaus A Kuhn; Melanie Waldenberger; Dominik Schmelcher; Simone Schuffenhauer; Thomas Meitinger; Sebastian H R Wurst; Gregor Lamla; Isabel Fortier; Paul R Burton; Leena Peltonen; Markus Perola; Andres Metspalu; Peter Riegman; Ulf Landegren; Michael J Taussig; Jan-Eric Litton; Martin N Fransson; Johann Eder; Anne Cambon-Thomsen; Jasper Bovenberg; Georges Dagher; Gert-Jan van Ommen; Michael Griffith; Martin Yuille; Kurt Zatloukal
Journal:  Nat Biotechnol       Date:  2011-09-08       Impact factor: 54.908

2.  Population biobanking in selected European countries and proposed model for a Polish national DNA bank.

Authors:  Jarosław Sak; Jakub Pawlikowski; Mariusz Goniewicz; Magdalena Witt
Journal:  J Appl Genet       Date:  2012-01-27       Impact factor: 3.240

3.  BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples.

Authors:  Petr Holub; Morris Swertz; Robert Reihs; David van Enckevort; Heimo Müller; Jan-Eric Litton
Journal:  Biopreserv Biobank       Date:  2016-12       Impact factor: 2.300

Review 4.  The challenge for a European network of biobanks for rare diseases taken up by RD-Connect.

Authors:  Lucia Monaco; Marco Crimi; Chiuhui Mary Wang
Journal:  Pathobiology       Date:  2015-03-16       Impact factor: 4.342

5.  Evaluating Generalizability of a Biospecimen Informatics Approach: Support for Local Requirements and Best Practices.

Authors:  Cindy Chen; Regina T Wulff; Evan T Sholle; Gail J Roboz; David A Kraemer; Thomas R Campion
Journal:  AMIA Jt Summits Transl Sci Proc       Date:  2018-05-18

6.  BioSCOOP - Biobank Sample Communication Protocol. New approach for the transfer of information between biobanks.

Authors:  J Jarczak; J Lach; P Borówka; M Gałka; M Bućko; B Marciniak; D Strapagiel
Journal:  Database (Oxford)       Date:  2019-01-01       Impact factor: 3.451

  6 in total

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