copy number and loss of heterozygosity detected by snp array of formalin-fixed tissues using whole-genome amplification拷贝数和杂合性丢失检测snp formalin-fixed组织使用全基因组扩增的数组.pdfVIP

Copy Number and Loss of Heterozygosity Detected by SNP Array of Formalin-Fixed Tissues Using Whole- Genome Amplification 1 2,3 1,4 3¤ 5 Angela Stokes *, Ignat Drozdov , Eliete Guerra , Christos A. Ouzounis , Saman Warnakulasuriya , 6 7 1 1 Michael J. Gleeson , Mark McGurk , Mahvash Tavassoli , Edward W. Odell 1 Department of Oral Pathology, King’s College London Dental Institute, London, United Kingdom, 2 Cardiovascular Division, British Heart Foundation Centre of Research Excellence, King’s College London, London, United Kingdom, 3 Department of Informatics, Centre for Bioinformatics, School of Natural and Mathematical Sciences, King’s College London, London, United Kingdom, 4 Oral Pathology, Department of Dentistry, Faculty of Health Science, University of Brasilia, Brasilia, Brazil, 5 Department of Oral Medicine, King’s College London Dental Institute, London, United Kingdom, 6 Department of Otolaryngology, Guy’s Hospital, London, United Kingdom, 7 Department of Oral and Maxillofacial Surgery, King’s College London Dental Institute, London, United Kingdom Abstract The requirement for large amounts of good quality DNA for whole-genome applications prohibits their use for small, laser capture micro-dissected (LCM), and/or rare clinical samples, which are also often formalin-fixed and paraffin-embedded (FFPE). Whole-genome amplification of DNA from these samples could, potentially, overcome these limitations. However, little is known about the artefacts introduced by amplification of FFPE-derived DNA with regard to genotyping, and subsequent copy number and loss of heterozygosity