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Article

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

BMC genetics - 29 Jan 2014

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

Abstract excerpt

BACKGROUND: 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...

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Share to Diabetes Mellitus, Type 2
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to GCK gene

Share to KCNJ11 gene

Share to INDEL Mutation

Share to Polymorphism, Single Nucleotide

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 24476040
DOI: 10.1186/1471-2156-15-13
PMCID: PMC3943834

Genes

GCK
INS
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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