Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders

Amstutz, Ursula; Andrey-Zürcher, Gisela; Suciu, Dominic; Jaggi, Rolf; Häberle, Johannes; Largiadèr, Carlo R (2011). Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders. Clinical chemistry, 57(1), pp. 102-11. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2010.150706

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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.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Forschungsbereich Pathologie > Forschungsgruppe Molekularbiologie 04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
UniBE Contributor:	Jaggi, Rolf, Largiadèr, Carlo Rodolfo
ISSN:	0009-9147
Publisher:	American Association for Clinical Chemistry
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 14:21
Last Modified:	05 Dec 2022 14:06
Publisher DOI:	10.1373/clinchem.2010.150706
PubMed ID:	21068339
Web of Science ID:	000285686100017
URI:	https://boris.unibe.ch/id/eprint/7004 (FactScience: 212139)