(Q38927327)

7 September 2017

title

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites (English)

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7 September 2017

main subject

whole genome sequencing

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3

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7 September 2017

8

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7 September 2017

9

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7 September 2017

21

J Craig Venter

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Michael Hicks

Michael Hicks

2

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Jonas Zierer

Jonas Zierer

7

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Tao Long

Tao Long

1

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Amalio Telenti

22

Amalio Telenti

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7 September 2017

20

Tim D Spector

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7 September 2017

6

Cristina Menni

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7 September 2017

16

Lining Guo

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7 September 2017

19

Chad Garner

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7 September 2017

11

Suzanne Brewerton

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7 September 2017

12

Yaron Turpaz

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7 September 2017

18

Nicholas J Schork

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7 September 2017

William H Biggs

4

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7 September 2017

Ewen F Kirkness

5

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7 September 2017

Helen Messier

10

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7 September 2017

Brad A Perkins

13

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7 September 2017

Anne M Evans

14

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7 September 2017

Luke A D Miller

15

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7 September 2017

C Thomas Caskey

17

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7 September 2017

language of work or name

English

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publication date

6 March 2017

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7 September 2017

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7 September 2017

volume

49

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7 September 2017

issue

4

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7 September 2017

page(s)

568-578

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Long term conservation of human metabolic phenotypes and link to heritability

7 September 2017

cites work

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

An atlas of genetic influences on human blood metabolites

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7 January 2021

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

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7 January 2021

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

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7 January 2021

Plasma metabolomic profiles enhance precision medicine for volunteers of normal health

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7 January 2021

Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease

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7 January 2021

Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis

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7 January 2021

An exome array study of the plasma metabolome

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7 January 2021

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7 January 2021

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7 January 2021

Deep sequencing of 10,000 human genomes

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7 January 2021

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7 January 2021

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7 January 2021

Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses

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7 January 2021

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

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7 January 2021

Mining the unknown: a systems approach to metabolite identification combining genetic and metabolic information

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7 January 2021

Rare-variant association testing for sequencing data with the sequence kernel association test

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7 January 2021

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

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7 January 2021

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene

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7 January 2021

A spectral approach integrating functional genomic annotations for coding and noncoding variants

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7 January 2021

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency

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7 January 2021

Identification of a variant associated with adult-type hypolactasia

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7 January 2021

Circulating 1,5-anhydroglucitol levels in adult patients with diabetes reflect longitudinal changes of glycemia: a U.S. trial of the GlycoMark assay

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7 January 2021

Habitual intake of dairy products influences serum 1,5-anhydroglucitol levels independently of plasma glucose

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7 January 2021

Common reabsorption system of 1,5-anhydro-D-glucitol, fructose, and mannose in rat renal tubule

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7 January 2021

Functional characterisation of human SGLT-5 as a novel kidney-specific sodium-dependent sugar transporter.

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7 January 2021

Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene

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7 January 2021

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

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7 January 2021

Human metabolic individuality in biomedical and pharmaceutical research

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7 January 2021

Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum

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7 January 2021

Uncovering the roles of rare variants in common disease through whole-genome sequencing

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7 January 2021

Metabolomic markers reveal novel pathways of ageing and early development in human populations

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7 January 2021

DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene.

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7 January 2021

Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.

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7 January 2021

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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7 January 2021

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

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7 January 2021

The use of linear mixed models to estimate variance components from data on twin pairs by maximum likelihood

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

PLINK: a tool set for whole-genome association and population-based linkage analyses

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7 January 2021

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7 January 2021

Further improvements to linear mixed models for genome-wide association studies

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7 January 2021

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

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7 January 2021

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7 January 2021

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7 January 2021

KEGG: kyoto encyclopedia of genes and genomes

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7 January 2021

Structural and mutational characterization of L-carnitine binding to human carnitine acetyltransferase

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7 January 2021

Lys314 is a nucleophile in non-classical reactions of orotidine-5'-monophosphate decarboxylase

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7 January 2021

Crystal structure of human cholesterol sulfotransferase (SULT2B1b) in the presence of pregnenolone and 3'-phosphoadenosine 5'-phosphate. Rationale for specificity differences between prototypical SULT2A1 and the SULT2BG1 isoforms

1 reference

7 January 2021

The SWISS-MODEL Repository and associated resources

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7 January 2021

The SWISS-MODEL Repository of annotated three-dimensional protein structure homology models

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7 January 2021

MODBASE, a database of annotated comparative protein structure models, and associated resources.

1 reference

7 January 2021

Sources and physiological significance of plasma dopamine sulfate.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28263315

12 December 2020

inferred from PubMed ID database lookup

1,5-anhydro-D-glucitol: a novel marker of glucose excursions.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28263315

12 December 2020

inferred from PubMed ID database lookup

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28263315

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.3809

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7 September 2017

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