Automated Genotyping of Biobank Samples by Multiplex Amplification of Insertion/Deletion Polymorphisms
2012 (English)In: PLoS ONE, ISSN 1932-6203, Vol. 7, no 12, e52750- p.Article in journal (Refereed) Published
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.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-193620DOI: 10.1371/journal.pone.0052750ISI: 000312829100077OAI: oai:DiVA.org:uu-193620DiVA: diva2:603459