Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

2.50
Hdl Handle:
http://hdl.handle.net/11287/619206
Title:
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Authors:
Ellard, Sian ( 0000-0002-7620-5526 ) ; Lango Allen, H.; De Franco, Elisa; Flanagan, Sarah; Hysenaj, G.; Colclough, K.; Houghton, J. A. L.; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Hattersley, Andrew T.; Weedon, M. N.; Caswell, Richard C.
Abstract:
Current genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes.
Citation:
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. 2013, 56 (9):1958-63 Diabetologia
Publisher:
Springer
Journal:
Diabetologia
Issue Date:
Sep-2013
URI:
http://hdl.handle.net/11287/619206
DOI:
10.1007/s00125-013-2962-5
PubMed ID:
23771172
Additional Links:
http://link.springer.com/article/10.1007%2Fs00125-013-2962-5
Note:
This article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site.
Type:
Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1432-0428
Appears in Collections:
pre-2014 RD&E publications; Diabetes/Endocrine Services; Clinical Genetics (Peninsula Genetics); Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorEllard, Sianen
dc.contributor.authorLango Allen, H.en
dc.contributor.authorDe Franco, Elisaen
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorHysenaj, G.en
dc.contributor.authorColclough, K.en
dc.contributor.authorHoughton, J. A. L.en
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorWeedon, M. N.en
dc.contributor.authorCaswell, Richard C.en
dc.date.accessioned2016-09-01T11:09:32Z-
dc.date.available2016-09-01T11:09:32Z-
dc.date.issued2013-09-
dc.identifier.citationImproved genetic testing for monogenic diabetes using targeted next-generation sequencing. 2013, 56 (9):1958-63 Diabetologiaen
dc.identifier.issn1432-0428-
dc.identifier.pmid23771172-
dc.identifier.doi10.1007/s00125-013-2962-5-
dc.identifier.urihttp://hdl.handle.net/11287/619206-
dc.description.abstractCurrent genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttp://link.springer.com/article/10.1007%2Fs00125-013-2962-5en
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleImproved genetic testing for monogenic diabetes using targeted next-generation sequencing.en
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalDiabetologiaen
dc.description.noteThis article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site.en
dc.description.funding098395/Wellcome Trust/United Kingdom 11/0004316/Diabetes UK/United Kingdom PDA/02/06/098/Department of Health/United Kingdom Wellcome Trust/United Kingdomen
dc.type.versionPublisheden

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