(Q30391938)

18 August 2017

eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants (English)

1 reference

18 August 2017

1 reference

William S Bush

7

0 references

Sarah Pendergrass

Sarah A Pendergrass

3

0 references

Helena Kuivaniemi

Helena Kuivaniemi

6

0 references

Gerard Tromp

Gerard Tromp

17

0 references

Marylyn D. Ritchie

16

Marylyn D Ritchie

1 reference

18 August 2017

4

Dana C Crawford

1 reference

18 August 2017

12

Joshua C Denny

1 reference

18 August 2017

15

Mariza De Andrade

1 reference

18 August 2017

5

David R Crosslin

1 reference

18 August 2017

9

Iftikhar Kullo

1 reference

18 August 2017

10

Suzette J Bielinski

1 reference

18 August 2017

14

Scott Hebbring

1 reference

18 August 2017

13

Peggy Peissig

1 reference

18 August 2017

8

Yuki Bradford

1 reference

18 August 2017

2

Shefali S Verma

1 reference

18 August 2017

Anurag Verma

1

1 reference

18 August 2017

Rongling Li

11

1 reference

18 August 2017

12 August 2016

1 reference

18 August 2017

1 reference

18 August 2017

9 Suppl 1

1 reference

18 August 2017

32

1 reference

Association of the ACTN3 R577X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscle

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Imputation and quality control steps for combining multiple genome-wide datasets

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Phenome-wide association studies (PheWASs) for functional variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Analysis of stop-gain and frameshift variants in human innate immunity genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Choice of transcripts and software has a large effect on variant annotation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

The challenges, advantages and future of phenome-wide association studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

GEMINI: integrative exploration of genetic variation and genome annotations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Pleiotropy in complex traits: challenges and strategies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

NMD: a multifaceted response to premature translational termination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

A high-performance computing toolset for relatedness and principal component analysis of SNP data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Detecting transcription of ribosomal protein pseudogenes in diverse human tissues from RNA-seq data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

The mycobiome: influencing IBD severity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Personalizing medicine with clinical pharmacogenetics

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Synthesis-View: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

A map of human genome variation from population-scale sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Loss-of-function CYP2C9 variants: finding the correct clinical role for Type 2 diabetes pharmacogenetic testing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Human dectin-1 deficiency and mucocutaneous fungal infections

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Targeted capture and massively parallel sequencing of 12 human exomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

The HLA Region and Autoimmune Disease: Associations and Mechanisms of Action

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Common variants of FUT2 are associated with plasma vitamin B12 levels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Principal components analysis corrects for stratification in genome-wide association studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

The emergence of epidemiology in the genomics age.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

Diabetes mellitus and genetically programmed defects in beta-cell function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989894

The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12920-016-0191-8

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12920-016-0191-8

Changes in heart rate variability and QT dispersion in patients with overt hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12920-016-0191-8

Subclinical hypothyroidism is characterized by increased QT interval dispersion among women

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12920-016-0191-8

Polymorphisms in Toll‐Like Receptor Genes and Susceptibility to Pulmonary Aspergillosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12920-016-0191-8

Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27535653

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12920-016-0191-8

1 reference

Dimensions Publication ID

18 August 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s12920-016-0191-8

1 reference

18 August 2017

PubMed publication ID

27535653

1 reference