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

Mathot L, Falk-Sörqvist E, Moens L, Allen M, Sjöblom T, Nilsson M

PLoS ONE 7 (12) e52750 [2012-12-27; online 2012-12-27]

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.

Affiliated researcher

PubMed 23300761

DOI 10.1371/journal.pone.0052750

Crossref 10.1371/journal.pone.0052750

pii: PONE-D-12-32470
pmc: PMC3531329

Publications 9.5.0