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

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

Standard

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

Harvard

Gao, R, Liu, Y, Gjesing, AMP, Hollensted, M, Wan, X, He, S, Pedersen, OB, Yi, X, Wang, J & Hansen, T 2014, 'Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model', B M C Genetics, vol. 15, 13. https://doi.org/10.1186/1471-2156-15-13

APA

Gao, R., Liu, Y., Gjesing, A. M. P., Hollensted, M., Wan, X., He, S., Pedersen, O. B., Yi, X., Wang, J., & Hansen, T. (2014). Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. B M C Genetics, 15, [13]. https://doi.org/10.1186/1471-2156-15-13

Vancouver

Gao R, Liu Y, Gjesing AMP, Hollensted M, Wan X, He S et al. Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. B M C Genetics. 2014;15. 13. https://doi.org/10.1186/1471-2156-15-13

Author

Gao, Rui ; Liu, Yanxia ; Gjesing, Anette Marianne Prior ; Hollensted, Mette ; Wan, Xianzi ; He, Shuwen ; Pedersen, Oluf Borbye ; Yi, Xin ; Wang, Jun ; Hansen, Torben. / Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. In: B M C Genetics. 2014 ; Vol. 15.

Bibtex

@article{b0c9eb1e75aa44e287bf021f64cf33b9,
title = "Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model",
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.",
author = "Rui Gao and Yanxia Liu and Gjesing, {Anette Marianne Prior} and Mette Hollensted and Xianzi Wan and Shuwen He and Pedersen, {Oluf Borbye} and Xin Yi and Jun Wang and Torben Hansen",
year = "2014",
doi = "10.1186/1471-2156-15-13",
language = "English",
volume = "15",
journal = "BMC Genetics",
issn = "1471-2156",
publisher = "BioMed Central Ltd.",

}

RIS

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