Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1–2% of all cases of diabetes. However, phenotypic heterogeneity a...
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sg-ntu-dr.10356-858522020-11-01T05:13:00Z Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals Bansal, Vikas Gassenhuber, Johann Phillips, Tierney Oliveira, Glenn Harbaugh, Rebecca Villarasa, Nikki Topol, Eric J. Seufferlein, Thomas Boehm, Bernhard Otto Lee Kong Chian School of Medicine (LKCMedicine) High-throughput Sequencing Monogenic Diabetes Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1–2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes. MOE (Min. of Education, S’pore) Published version 2018-07-27T01:36:11Z 2019-12-06T16:11:21Z 2018-07-27T01:36:11Z 2019-12-06T16:11:21Z 2017 Journal Article Bansal, V., Gassenhuber, J., Phillips, T., Oliveira, G., Harbaugh, R., Villarasa, N., et al. (2017). Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC Medicine, 15(1), 213-. https://hdl.handle.net/10356/85852 http://hdl.handle.net/10220/45279 10.1186/s12916-017-0977-3 en BMC Medicine © 2017 The Author(s). Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. 14 p. application/pdf |
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| topic |
High-throughput Sequencing Monogenic Diabetes |
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High-throughput Sequencing Monogenic Diabetes Bansal, Vikas Gassenhuber, Johann Phillips, Tierney Oliveira, Glenn Harbaugh, Rebecca Villarasa, Nikki Topol, Eric J. Seufferlein, Thomas Boehm, Bernhard Otto Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals |
| description |
Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1–2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes. |
| author2 |
Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet |
Lee Kong Chian School of Medicine (LKCMedicine) Bansal, Vikas Gassenhuber, Johann Phillips, Tierney Oliveira, Glenn Harbaugh, Rebecca Villarasa, Nikki Topol, Eric J. Seufferlein, Thomas Boehm, Bernhard Otto |
| format |
Article |
| author |
Bansal, Vikas Gassenhuber, Johann Phillips, Tierney Oliveira, Glenn Harbaugh, Rebecca Villarasa, Nikki Topol, Eric J. Seufferlein, Thomas Boehm, Bernhard Otto |
| author_sort |
Bansal, Vikas |
| title |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals |
| title_short |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals |
| title_full |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals |
| title_fullStr |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals |
| title_full_unstemmed |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals |
| title_sort |
spectrum of mutations in monogenic diabetes genes identified from high-throughput dna sequencing of 6888 individuals |
| publishDate |
2018 |
| url |
https://hdl.handle.net/10356/85852 http://hdl.handle.net/10220/45279 |
| _version_ |
1683493174366961664 |