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Automated Genotypin...
Automated Genotyping of Biobank Samples by Multiplex Amplification of Insertion/Deletion Polymorphisms
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- Mathot, Lucy (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab
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- Falk Sörqvist, Elin (author)
- Uppsala universitet,Molekylära verktyg,Science for Life Laboratory, SciLifeLab
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- Moens, Lotte (author)
- Uppsala universitet,Molekylära verktyg,Science for Life Laboratory, SciLifeLab
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- Allen, Marie (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab
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- Sjöblom, Tobias (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab
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- Nilsson, Mats (author)
- Uppsala universitet,Stockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Uppsala University, Sweden,Molekylära verktyg,Science for Life Laboratory, SciLifeLab
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(creator_code:org_t)
- 2012-12-27
- 2012
- English.
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In: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 7:12
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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