(Q38732876)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Unravelling the human genome-phenome relationship using phenome-wide association studies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

genome-wide association study

7 March 2020

main subject

0 references

author

William S Bush

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Dana Crawford

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Matthew T Oetjens

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

publication date

15 February 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

published in

Nature Reviews Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

129-145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26875678%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/nrg.2015.36

7 March 2020

exact match

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

21 January 2018

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Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science

21 January 2018

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21 January 2018

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Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks

21 January 2018

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Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Common variants at CD40 and other loci confer risk of rheumatoid arthritis

21 January 2018

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

21 January 2018

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Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRG.2015.36

Pleiotropic associations of risk variants identified for other cancers with lung cancer risk: the PAGE and TRICL consortia

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRG.2015.36

Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia

21 January 2018

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Association of cancer susceptibility variants with risk of multiple primary cancers: The population architecture using genomics and epidemiology study

21 January 2018

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Pleiotropic and sex-specific effects of cancer GWAS SNPs on melanoma risk in the population architecture using genomics and epidemiology (PAGE) study

21 January 2018

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Genome-wide "pleiotropy scan" identifies HNF1A region as a novel pancreatic cancer susceptibility locus

21 January 2018

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A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A genome-wide pleiotropy scan for prostate cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Pervasive sharing of genetic effects in autoimmune disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Meta-analysis in genome-wide association studies

21 January 2018

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Meta-analysis methods for genome-wide association studies and beyond

21 January 2018

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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

21 January 2018

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Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study

21 January 2018

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Common variants at 30 loci contribute to polygenic dyslipidemia

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRG.2015.36

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRG.2015.36

Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

GWAS in a box: statistical and visual analytics of structured associations via GenAMap

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRG.2015.36

Pleiotropic genes for metabolic syndrome and inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Genome-wide association studies in diverse populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Prevalence of actinic keratosis and its risk factors in the general population: the Rotterdam Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Web-based, participant-driven studies yield novel genetic associations for common traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A GWAS Study on Liver Function Test Using eMERGE Network Participants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A PheWAS approach in studying HLA-DRB1*1501.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Phenome-wide association studies (PheWASs) for functional variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

ICD-10-CM Crosswalks in the primary care setting: assessing reliability of the GEMs and reimbursement mappings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Application of clinical text data for phenome-wide association studies (PheWASs).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A comparison of phenotype definitions for diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

ICD-9 tobacco use codes are effective identifiers of smoking status

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Automated extraction of clinical traits of multiple sclerosis in electronic medical records

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Construction of atorvastatin dose-response relationships using data from a large population-based DNA biobank

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Finding our way through phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Common disorders are quantitative traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A rigorous algorithm to detect and clean inaccurate adult height records within EHR systems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Extraction of echocardiographic data from the electronic medical record is a rapid and efficient method for study of cardiac structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Identifying patient smoking status from medical discharge records

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Dietary intake in the Personalized Medicine Research Project: a resource for studies of gene-diet interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Community-level determinants of obesity: harnessing the power of electronic health records for retrospective data analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Body mass index and the built and social environments in children and adolescents using electronic health records

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

An Environment-Wide Association Study (EWAS) on type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Personal omics profiling reveals dynamic molecular and medical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Incorporating temporal EHR data in predictive models for risk stratification of renal function deterioration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Generalized estimating equations for genome-wide association studies using longitudinal phenotype data.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

MedEx: a medication information extraction system for clinical narratives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

MedXN: an open source medication extraction and normalization tool for clinical text

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Normalized names for clinical drugs: RxNorm at 6 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Reform of Clinical Research Regulations, Finally

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Ethical, legal, and social implications of incorporating genomic information into electronic health records

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Identifiability in biobanks: models, measures, and mitigation strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Identifying personal genomes by surname inference

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Return of genomic results to research participants: the floor, the ceiling, and the choices in between

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

The NCBI dbGaP database of genotypes and phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

NCBI's Database of Genotypes and Phenotypes: dbGaP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

The PhenX Toolkit: get the most from your measures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Using PhenX measures to identify opportunities for cross-study analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A unified framework for association analysis with multiple related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

TATES: efficient multivariate genotype-phenotype analysis for genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A comparison of multivariate genome-wide association methods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Bivariate association analyses for the mixture of continuous and binary traits with the use of extended generalized estimating equations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

News from the NIH: potential contributions of the behavioral and social sciences to the precision medicine initiative

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

What makes UK Biobank special?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

eMERGEing progress in genomics-the first seven years

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Bringing the Common Rule into the 21st Century

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

A multivariate test of association

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Pleiotropy and principal components of heritability combine to increase power for association analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Informed consent: a broken contract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Planning for US Precision Medicine Initiative underway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Accuracy of administrative coding for type 2 diabetes in children, adolescents, and young adults

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Common disorders are quantitative traits

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Final Report

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2015.36

Linkage of the 1999-2008 National Health and Nutrition Examination Surveys to traffic indicators from the National Highway Planning Network.

31 March 2020

1 reference

12 December 2020

Development of exposome correlation globes to map out environment-wide associations

1 reference

12 December 2020

TESTING POPULATION-SPECIFIC QUANTITATIVE TRAIT ASSOCIATIONS FOR CLINICAL OUTCOME RELEVANCE IN A BIOREPOSITORY LINKED TO ELECTRONIC HEALTH RECORDS: LPA AND MYOCARDIAL INFARCTION IN AFRICAN AMERICANS.

1 reference

12 December 2020

BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge

1 reference

12 December 2020

Strategies for handling missing data in electronic health record derived data

1 reference

12 December 2020

Phenotype Information Retrieval for Existing GWAS Studies

1 reference

12 December 2020

Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank

1 reference

12 December 2020

Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.

1 reference

12 December 2020

Utilization of an EMR-biorepository to identify the genetic predictors of calcineurin-inhibitor toxicity in heart transplant recipients

1 reference

12 December 2020

Linkage of the Third National Health and Nutrition Examination Survey to air quality data

1 reference

12 December 2020

Metrics and tools for consistent cohort discovery and financial analyses post-transition to ICD-10-CM

1 reference

12 December 2020