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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Whitney L Wooderchak-Donahue1, Brendan O’Fallon1, Larissa V Furtado2, Jacob D Durtschi1, Parker Plant1, Perry G Ridge1, Alan F Rope3, Angela T Yetman4 and Pinar Bayrak-Toydemir125*

Author Affiliations

1 ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, USA

2 Department of Pathology, University of Utah, Salt Lake City, USA

3 Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, USA

4 Department of Pediatrics, Division of Cardiology, University of Utah, Salt Lake City, USA

5 Molecular Genetics Department, ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT, 84108, USA

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BMC Medical Genomics 2012, 5:50  doi:10.1186/1755-8794-5-50

Published: 14 November 2012

Additional files

Additional file 1:

Figure S1. NGS and Sanger sequencing confirm the pathogenic FBN1 mutation in sample 1. A heterozygous nonsense mutation (c.1585C>T, p.R529X) was detected using RainDance PCR enrichment (panel A) and SureSelect capture enrichment (panel B). In C, Sanger sequencing confirmed the mutation detected in both enrichment strategies. The FBN1 gene is on the reverse strand, and appears in the 3’ to 5’ orientation in the NGS traces versus the Sanger sequencing trace which is 5’ to 3’. Table S1. Summary of variants detected from the RainDance and SureSelect enrichments.

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