The UK10K project identifies rare variants in health and disease (Q34494047)

2 August 2017

The UK10K project identifies rare variants in health and disease (English)

1 reference

2 August 2017

29

Nicole Soranzo

0 references

Inês Barroso

19

Inês Barroso

0 references

Eleftheria Zeggini

22

Eleftheria Zeggini

0 references

Valentina Iotchkova

Valentina Iotchkova

12

0 references

Shane McCarthy

Shane McCarthy

7

0 references

Daniel J. Lawson

Daniel Lawson

11

0 references

Jeffrey C Barrett

Jeffrey C Barrett

23

0 references

Louise Wain

Louise V Wain

18

0 references

Vincent Plagnol

Vincent Plagnol

24

0 references

Stephen E Humphries

Steve E Humphries

20

0 references

Nicholas J. Timpson

Nicholas J Timpson

27

0 references

Stephan Schiffels

Stephan Schiffels

13

0 references

Audrey E Hendricks

Audrey E Hendricks

14

0 references

Marta Futema

Marta Futema

10

0 references

Richard M. Durbin

28

Richard Durbin

1 reference

2 August 2017

6

Yasin Memari

1 reference

2 August 2017

15

Petr Danecek

1 reference

ORCID Public Data File 2021

2 August 2017

1 reference

author name string

UK10K Consortium

1

1 reference

2 August 2017

Klaudia Walter

2

1 reference

2 August 2017

Josine L Min

3

1 reference

2 August 2017

Jie Huang

4

1 reference

2 August 2017

Lucy Crooks

5

1 reference

2 August 2017

John R B Perry

8

1 reference

2 August 2017

ChangJiang Xu

9

1 reference

2 August 2017

Rui Li

16

1 reference

2 August 2017

James Floyd

17

1 reference

2 August 2017

Matthew E Hurles

21

1 reference

2 August 2017

J Brent Richards

25

1 reference

2 August 2017

Celia M T Greenwood

26

1 reference

2 August 2017

language of work or name

English

0 references

publication date

14 September 2015

1 reference

2 August 2017

1 reference

2 August 2017

526

1 reference

2 August 2017

7571

1 reference

2 August 2017

82-90

1 reference

https://scigraph.springernature.com/pub.10.1038/nature14962

2 August 2017

0 references

cites work

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

An interactive genome browser of association results from the UK10K cohorts project

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Large-scale whole-genome sequencing of the Icelandic population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

The fine-scale genetic structure of the British population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Whole-genome sequence-based analysis of thyroid function.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Integrative analysis of 111 reference human epigenomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Whole-genome sequence variation, population structure and demographic history of the Dutch population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Loss-of-function mutations in APOC3 and risk of ischemic vascular disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Estimating genome-wide significance for whole-genome sequencing studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

The deleterious mutation load is insensitive to recent population history

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Searching for missing heritability: designing rare variant association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Managing clinically significant findings in research: the UK10K example

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

ClinVar: public archive of relationships among sequence variation and human phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Bringing genome-wide association findings into clinical use.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Genes contributing to pain sensitivity in the normal population: an exome sequencing study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

The UK Adult Twin Registry (TwinsUK Resource)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

An integrated encyclopedia of DNA elements in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Optimal tests for rare variant effects in sequencing association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Cohort profile: the 'children of the 90s'—the index offspring of the Avon Longitudinal Study of Parents and Children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Inference of population structure using dense haplotype data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Low-coverage sequencing: implications for design of complex trait association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Promise and pitfalls of the Immunochip

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Rare variant association analysis methods for complex traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Biological, clinical and population relevance of 95 loci for blood lipids

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Common SNPs explain a large proportion of the heritability for human height

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773891

BLUEPRINT to decode the epigenetic signature written in blood.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14962

Differential confounding of rare and common variants in spatially structured populations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14962

Quantum nonlinear optics with single photons enabled by strongly interacting atoms

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14962

CDH13 gene coding t-cadherin influences variations in plasma adiponectin levels in the Japanese population

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26367797

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nonfasting Triglycerides and Risk of Myocardial Infarction, Ischemic Heart Disease, and Death in Men and Women

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26367797

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE14962

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference