Lessons from whole-exome sequencing in MODYX families

Petra Dusatkova; Mingyan Fang; Stepanka Pruhova; Anette P Gjesing; Ondrej Cinek; Torben Hansen; Oluf B Pedersen; Xun Xu; Jan Lebl

doi:10.1016/j.diabres.2014.03.008

Lessons from whole-exome sequencing in MODYX families

Petra Dusatkova, Mingyan Fang, Stepanka Pruhova, Anette P Gjesing, Ondrej Cinek, Torben Hansen, Oluf B Pedersen, Xun Xu, Jan Lebl

13 Citationer (Scopus)

Abstract

We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

Originalsprog	Engelsk
Tidsskrift	Diabetes Research and Clinical Practice
Vol/bind	104
Udgave nummer	3
Sider (fra-til)	e72-4
Antal sider	3
ISSN	0168-8227
DOI	https://doi.org/10.1016/j.diabres.2014.03.008
Status	Udgivet - jun. 2014

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10.1016/j.diabres.2014.03.008

Citationsformater

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title = "Lessons from whole-exome sequencing in MODYX families",

abstract = "We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.",

keywords = "Adolescent, Adult, Aged, Diabetes Mellitus, Type 2, Exome, Female, Genome, Human, Hepatocyte Nuclear Factor 1-beta, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Pedigree, Polymorphism, Genetic, Young Adult",

author = "Petra Dusatkova and Mingyan Fang and Stepanka Pruhova and Gjesing, {Anette P} and Ondrej Cinek and Torben Hansen and Pedersen, {Oluf B} and Xun Xu and Jan Lebl",

year = "2014",

month = jun,

doi = "10.1016/j.diabres.2014.03.008",

language = "English",

volume = "104",

pages = "e72--4",

journal = "Diabetes Research and Clinical Practice",

issn = "0168-8227",

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T1 - Lessons from whole-exome sequencing in MODYX families

AU - Dusatkova, Petra

AU - Fang, Mingyan

AU - Pruhova, Stepanka

AU - Gjesing, Anette P

AU - Cinek, Ondrej

AU - Hansen, Torben

AU - Pedersen, Oluf B

AU - Xu, Xun

AU - Lebl, Jan

PY - 2014/6

Y1 - 2014/6

N2 - We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

AB - We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

KW - Adolescent

KW - Adult

KW - Aged

KW - Diabetes Mellitus, Type 2

KW - Exome

KW - Female

KW - Genome, Human

KW - Hepatocyte Nuclear Factor 1-beta

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Male

KW - Middle Aged

KW - Pedigree

KW - Polymorphism, Genetic

KW - Young Adult

U2 - 10.1016/j.diabres.2014.03.008

DO - 10.1016/j.diabres.2014.03.008

M3 - Journal article

C2 - 24698406

SN - 0168-8227

VL - 104

SP - e72-4

JO - Diabetes Research and Clinical Practice

JF - Diabetes Research and Clinical Practice

IS - 3

ER -

Lessons from whole-exome sequencing in MODYX families

Abstract

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