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

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

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.
OriginalsprogEngelsk
Artikelnummer13
TidsskriftB M C Genetics
Vol/bind15
Antal sider9
ISSN1471-2156
DOI
StatusUdgivet - 2014

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