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SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Remko Hersmus1, Hans Stoop1, Erin Turbitt4, J Wolter Oosterhuis1, Stenvert LS Drop3, Andrew H Sinclair4, Stefan J White2 and Leendert HJ Looijenga1*

Author Affiliations

1 Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands

2 Centre for Reproduction and Development, Monash Institute of Medical Research, Clayton, Victoria, Australia

3 Department of Pediatric Endocrinology, Erasmus MC - University Medical Center Rotterdam, Sophia Children’s Hospital, Rotterdam, The Netherlands

4 Murdoch Children’s Research Institute, and Department of Pediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne, Victoria, Australia

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BMC Medical Genetics 2012, 13:108  doi:10.1186/1471-2350-13-108

Published: 16 November 2012

Additional files

Additional file 1:

Table S1. Primers used for analyzing the 14 samples. Listed are the 56 different sequences that were used for amplifying two PCR products covering the SRY gene. Each primer consists of a 454-specific sequence, a 10 nt barcode unique for each sample (in bold), and a sequence for amplifying the SRY gene (italicised). The column “total reads” shows how many reads contained the first 9 nt of the corresponding barcode (plus the first 3 nt of the SRY primer to differentiate the two different PCR products), irrespective of the 10th nt of the barcode sequence. The column “total correct reads” shows how many reads contained the expected 10th nt of the corresponding barcode.

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