Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model

Rui Gao; Yanxia Liu; Anette Marianne Prior Gjesing; Mette Hollensted; Xianzi Wan; Shuwen He; Oluf Borbye Pedersen; Xin Yi; Jun Wang; Torben Hansen

doi:10.1186/1471-2156-15-13

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model

Rui Gao, Yanxia Liu, Anette Marianne Prior Gjesing, Mette Hollensted, Xianzi Wan, Shuwen He, Oluf Borbye Pedersen, Xin Yi, Jun Wang, Torben Hansen

Research output: Contribution to journal › Journal article › Research › peer-review

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Abstract

Monogenic diabetes is a genetic disease often caused by mutations in genes involved in beta-cell function. Correct sub-categorization of the disease is a prerequisite for appropriate treatment and genetic counseling. Target-region capture sequencing is a combination of genomic region enrichment and next generation sequencing which might be used as an efficient way to diagnose various genetic disorders. We aimed to develop a target-region capture sequencing platform to screen 117 selected candidate genes involved in metabolism for mutations and to evaluate its performance using monogenic diabetes as a study-model.

Original language	English
Article number	13
Journal	B M C Genetics
Volume	15
Number of pages	9
ISSN	1471-2156
DOIs	https://doi.org/10.1186/1471-2156-15-13
Publication status	Published - 2014

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10.1186/1471-2156-15-13

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Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. / Gao, Rui; Liu, Yanxia; Gjesing, Anette Marianne Prior; Hollensted, Mette; Wan, Xianzi; He, Shuwen; Pedersen, Oluf Borbye; Yi, Xin; Wang, Jun; Hansen, Torben.

In: B M C Genetics, Vol. 15, 13, 2014.

Research output: Contribution to journal › Journal article › Research › peer-review

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AU - Wang, Jun

AU - Hansen, Torben

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