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- Title
Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders.
- Authors
Amstutz, Ursula; Andrey-Zürcher, Gisela; Suciu, Dominic; Jaggi, Rolf; Häberle, Johannes; Largiadèr, Carlo R
- Abstract
Molecular genetic testing is commonly used to confirm clinical diagnoses of inherited urea cycle disorders (UCDs); however, conventional mutation screenings encompassing only the coding regions of genes may not detect disease-causing mutations occurring in regulatory elements and introns. Microarray-based target enrichment and next-generation sequencing now allow more-comprehensive genetic screening. We applied this approach to UCDs and combined it with the use of DNA bar codes for more cost-effective, parallel analyses of multiple samples.
- Publication
Clinical chemistry, 2011, Vol 57, Issue 1, p102
- ISSN
1530-8561
- Publication type
Journal Article
- DOI
10.1373/clinchem.2010.150706