Clinical Whole Exome Sequencing in Early Onset Diabetes Patients

Highlights • Whole exome sequencing can be used for molecular genetic diagnosis of MODY. • It can be an initial option for genetic testing in early onset diabetes patients. • There are limitations in universal coverage and interpretation of pathogenicity.

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Bibliographic Details
Published in:Diabetes research and clinical practice 2016-12, Vol.122, p.71-77
Main Authors: Kwak, Soo Heon, Jung, Chan-hyeon, Ahn, Chang Ho, Park, Jungsun, Chae, Jeesoo, Jung, Hye Seung, Cho, Young Min, Lee, Dae Ho, Kim, Jong-Il, Park, Kyong Soo
Format: Article
Language:English
Subjects:
Adolescent
Adult
Asian Continental Ancestry Group - genetics
Diabetes Mellitus, Type 2 - genetics
Endocrinology & Metabolism
Exome - genetics
Female
Genetic diagnosis
Genetic Testing - methods
High-Throughput Nucleotide Sequencing - methods
Humans
Male
Maturity-onset diabetes of the young
Middle Aged
Monogenic diabetes
Republic of Korea
Type 2 diabetes
Whole exome sequencing
Young Adult
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Description
Summary:Highlights • Whole exome sequencing can be used for molecular genetic diagnosis of MODY. • It can be an initial option for genetic testing in early onset diabetes patients. • There are limitations in universal coverage and interpretation of pathogenicity.
ISSN:0168-8227
1872-8227
DOI:10.1016/j.diabres.2016.10.005