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Automated Genotyping of Biobank Samples by Multiplex Amplification of Insertion/Deletion Polymorphisms
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2012 (English)In: PLoS ONE, ISSN 1932-6203, Vol. 7, no 12, e52750- p.Article in journal (Refereed) Published
Abstract [en]

The genomic revolution in oncology will entail mutational analyses of vast numbers of patient-matched tumor and normal tissue samples. This has meant an increased risk of patient sample mix up due to manual handling. Therefore, scalable genotyping and sample identification procedures are essential to pathology biobanks. We have developed an efficient alternative to traditional genotyping methods suited for automated analysis. By targeting 53 prevalent deletions and insertions found in human populations with fluorescent multiplex ligation dependent genome amplification, followed by separation in a capillary sequencer, a peak spectrum is obtained that can be automatically analyzed. 24 tumor-normal patient samples were successfully matched using this method. The potential use of the developed assay for forensic applications is discussed.

Place, publisher, year, edition, pages
2012. Vol. 7, no 12, e52750- p.
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Natural Sciences
URN: urn:nbn:se:su:diva-87681DOI: 10.1371/journal.pone.0052750ISI: 000312829100077OAI: diva2:605884
VinnovaEU, FP7, Seventh Framework Programme


Available from: 2013-02-15 Created: 2013-02-14 Last updated: 2013-02-15Bibliographically approved

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Nilsson, Mats
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Department of Biochemistry and BiophysicsScience for Life Laboratory (SciLifeLab)
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