Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model
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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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TY - JOUR
T1 - Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model
AU - Gao, Rui
AU - Liu, Yanxia
AU - Gjesing, Anette Marianne Prior
AU - Hollensted, Mette
AU - Wan, Xianzi
AU - He, Shuwen
AU - Pedersen, Oluf Borbye
AU - Yi, Xin
AU - Wang, Jun
AU - Hansen, Torben
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
U2 - 10.1186/1471-2156-15-13
DO - 10.1186/1471-2156-15-13
M3 - Journal article
C2 - 24476040
VL - 15
JO - BMC Genetics
JF - BMC Genetics
SN - 1471-2156
M1 - 13
ER -
ID: 101926253