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Methods of integrating data to uncover genotype-phenotype interactions

Nature reviews. Genetics, 2015-02, Vol.16 (2), p.85-97

2015

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Molecular subsets in the gene expression signatures of scleroderma skin

PloS one, 2008-07, Vol.3 (7), p.e2696-e2696

2008

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A simulation study investigating power estimates in phenome-wide association studies

BMC bioinformatics, 2018-04, Vol.19 (1), p.120-120, Article 120

2018

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A genome-wide association study of polycystic ovary syndrome identified from electronic health records

American journal of obstetrics and gynecology, 2020-10, Vol.223 (4), p.559.e1-559.e21

2020

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Intrinsic Gene Expression Subsets of Diffuse Cutaneous Systemic Sclerosis Are Stable in Serial Skin Biopsies

Journal of investigative dermatology, 2012-05, Vol.132 (5), p.1363-1373

2012

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Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico

BMC bioinformatics, 2019-01, Vol.20 (1), p.46-46, Article 46

2019

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Limited systemic sclerosis patients with pulmonary arterial hypertension show biomarkers of inflammation and vascular injury

PloS one, 2010-08, Vol.5 (8), p.e12106-e12106

2010

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A core MYC gene expression signature is prominent in basal-like breast cancer but only partially overlaps the core serum response

PloS one, 2009-08, Vol.4 (8), p.e6693-e6693

2009

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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

PLoS genetics, 2014-12, Vol.10 (12), p.e1004678

2014

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PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies

Nature communications, 2017-10, Vol.8 (1), p.1167-10, Article 1167

2017

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Dissecting genetic factors affecting phenylephrine infusion rates during anesthesia: a genome-wide association study employing EHR data

BMC medicine, 2019-08, Vol.17 (1), p.168-168, Article 168

2019

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Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data

PLoS genetics, 2013-12, Vol.9 (12), p.e1003959-e1003959

2013

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ATHENA: the analysis tool for heritable and environmental network associations

Bioinformatics, 2014-03, Vol.30 (5), p.698-705

2014

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

PLoS genetics, 2011-10, Vol.7 (10), p.e1002322

2011

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Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases

PloS one, 2016-08, Vol.11 (8), p.e0160573-e0160573

2016

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Novel EDGE encoding method enhances ability to identify genetic interactions

PLoS genetics, 2021-06, Vol.17 (6), p.e1009534-e1009534

2021

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Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records

BMC medical genomics, 2020-07, Vol.13 (1), p.105-105, Article 105

2020

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Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy

PLoS genetics, 2017-06, Vol.13 (6), p.e1006328

2017

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Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network

Genetic epidemiology, 2021-02, Vol.45 (1), p.4-15

2021

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Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia

Circulation. Genomic and precision medicine, 2018-08, Vol.11 (8), p.e002146-e002146

2018

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Visualizing genomic information across chromosomes with PhenoGram

BioData mining, 2013-10, Vol.6 (1), p.18-18, Article 18

2013

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Using Electronic Health Records To Generate Phenotypes For Research

Current Protocols in Human Genetics, 2019-01, Vol.100 (1), p.e80-n/a

2019

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Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals

American journal of human genetics, 2019-01, Vol.104 (1), p.55-64

2019

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Using Adipose Measures from Health Care Provider-Based Imaging Data for Discovery

Journal of obesity, 2018-01, Vol.2018 (2018), p.1-15

2018

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

BioData mining, 2012-06, Vol.5 (1), p.5-5, Article 5

2012

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Methods of integrating data to uncover genotype-phenotype interactions

Molecular subsets in the gene expression signatures of scleroderma skin

A simulation study investigating power estimates in phenome-wide association studies

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

Intrinsic Gene Expression Subsets of Diffuse Cutaneous Systemic Sclerosis Are Stable in Serial Skin Biopsies

Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico

Limited systemic sclerosis patients with pulmonary arterial hypertension show biomarkers of inflammation and vascular injury

A core MYC gene expression signature is prominent in basal-like breast cancer but only partially overlaps the core serum response

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

PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies

Dissecting genetic factors affecting phenylephrine infusion rates during anesthesia: a genome-wide association study employing EHR data

Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data

ATHENA: the analysis tool for heritable and environmental network associations

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

Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases

Novel EDGE encoding method enhances ability to identify genetic interactions

Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records

Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy

Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network

Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia

Visualizing genomic information across chromosomes with PhenoGram

Using Electronic Health Records To Generate Phenotypes For Research

Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals

Using Adipose Measures from Health Care Provider-Based Imaging Data for Discovery

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

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