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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Flannick, Jason ; Fuchsberger, Christian ; Mahajan, Anubha ; [et al.]

Springer Science and Business Media LLC ; 2017

In: Scientific Data Vol. 4, No. 1 ( 2017-12-19)

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In: Scientific Data, Springer Science and Business Media LLC, Vol. 4, No. 1 ( 2017-12-19)

Abstract: To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1–5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals ( 〉 80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

Type of Medium: Online Resource

ISSN: 2052-4463

URL: Article

DOI: 10.1038/sdata.2017.179

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2017

detail.hit.zdb_id: 2775191-0

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Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Flannick, Jason ; Fuchsberger, Christian ; Mahajan, Anubha ; [et al.]

Springer Science and Business Media LLC ; 2018

In: Scientific Data Vol. 5, No. 1 ( 2018-01-23)

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In: Scientific Data, Springer Science and Business Media LLC, Vol. 5, No. 1 ( 2018-01-23)

Abstract: Scientific Data 4:170179 doi: 10.1038/sdata.2017.179 (2017); Published 19 December 2017; Updated: 23 January 2018. In both the HTML and PDF versions of this Data Descriptor, the author name Jason Flannick was incorrectly listed as Flannick Jason.

Type of Medium: Online Resource

ISSN: 2052-4463

URL: Article

DOI: 10.1038/sdata.2018.2

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2018

detail.hit.zdb_id: 2775191-0

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The genetic architecture of type 2 diabetes

Fuchsberger, Christian ; Flannick, Jason ; Teslovich, Tanya M. ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Vol. 536, No. 7614 ( 2016-08-04), p. 41-47

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In: Nature, Springer Science and Business Media LLC, Vol. 536, No. 7614 ( 2016-08-04), p. 41-47

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/nature18642

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RVK:

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Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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Genetic evidence of assortative mating in humans

Robinson, Matthew R. ; Kleinman, Aaron ; Graff, Mariaelisa ; [et al.]

Springer Science and Business Media LLC ; 2017

In: Nature Human Behaviour Vol. 1, No. 1 ( 2017-01-09)

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In: Nature Human Behaviour, Springer Science and Business Media LLC, Vol. 1, No. 1 ( 2017-01-09)

Type of Medium: Online Resource

ISSN: 2397-3374

URL: Article

DOI: 10.1038/s41562-016-0016

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2017

detail.hit.zdb_id: 2885046-4

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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Manning, Alisa ; Highland, Heather M. ; Gasser, Jessica ; [et al.]

American Diabetes Association ; 2017

In: Diabetes Vol. 66, No. 7 ( 2017-07-01), p. 2019-2032

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In: Diabetes, American Diabetes Association, Vol. 66, No. 7 ( 2017-07-01), p. 2019-2032

Abstract: To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.

Type of Medium: Online Resource

ISSN: 0012-1797 , 1939-327X

URL: Article

DOI: 10.2337/db16-1329

Language: English

Publisher: American Diabetes Association

Publication Date: 2017

detail.hit.zdb_id: 1501252-9

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Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, Andrew R ; The Electronic Medical Records and Genomics (eMERGE) Consortium ; Esko, Tonu ; [et al.]

Springer Science and Business Media LLC ; 2014

In: Nature Genetics Vol. 46, No. 11 ( 2014-11), p. 1173-1186

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 46, No. 11 ( 2014-11), p. 1173-1186

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.3097

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2014

detail.hit.zdb_id: 1494946-5

SSG: 12

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Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W. ; Justice, Anne E. ; Graff, Mariaelisa ; [et al.]

Public Library of Science (PLoS) ; 2016

In: PLOS Genetics Vol. 12, No. 6 ( 2016-6-29), p. e1006166-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 12, No. 6 ( 2016-6-29), p. e1006166-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1006166

DOI: 10.1371/journal.pgen.1006166.s001

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2016

detail.hit.zdb_id: 2186725-2

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The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W. ; Justice, Anne E. ; Graff, Mariaelisa ; [et al.]

Public Library of Science (PLoS) ; 2015

In: PLOS Genetics Vol. 11, No. 10 ( 2015-10-1), p. e1005378-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 11, No. 10 ( 2015-10-1), p. e1005378-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1005378

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Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2015

detail.hit.zdb_id: 2186725-2

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Genetic studies of body mass index yield new insights for obesity biology

Locke, Adam E. ; The LifeLines Cohort Study ; Kahali, Bratati ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Vol. 518, No. 7538 ( 2015-02-12), p. 197-206

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In: Nature, Springer Science and Business Media LLC, Vol. 518, No. 7538 ( 2015-02-12), p. 197-206

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/nature14177

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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New genetic loci link adipose and insulin biology to body fat distribution

Shungin, Dmitry ; The ADIPOGen Consortium ; Winkler, Thomas W. ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Vol. 518, No. 7538 ( 2015-02-12), p. 187-196

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In: Nature, Springer Science and Business Media LLC, Vol. 518, No. 7538 ( 2015-02-12), p. 187-196

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/nature14132

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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