Automated genotyping of biobank samples by multiplex amplification of insertion/deletion polymorphisms

通过多重扩增插入/缺失多态性实现生物库样本的自动基因分型

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作者:Lucy Mathot, Elin Falk-Sörqvist, Lotte Moens, Marie Allen, Tobias Sjöblom, Mats Nilsson

Abstract

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.

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