(Q35052005)

6 August 2017

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

1 reference

genome-wide association study

6 August 2017

0 references

author

Luke V. Rasmussen

16

1 reference

6 August 2017

29

Gail P Jarvik

0 references

Jyotishman Pathak

19

Jyotishman Pathak

1 reference

6 August 2017

Jonathan D Mosley

6

0 references

Sarah Pendergrass

Sarah A Pendergrass

21

0 references

Paul K. Crane

Paul K Crane

18

0 references

Catherine A. McCarty

Catherine A McCarty

31

0 references

Jennifer A Pacheco

Jennifer A Pacheco

15

0 references

Marylyn D. Ritchie

3

Marylyn D Ritchie

1 reference

6 August 2017

34

Dana C Crawford

1 reference

6 August 2017

33

Jonathan L Haines

1 reference

6 August 2017

Teri A Manolio

25

0 references

Lisa Bastarache

2

Lisa Bastarache

1 reference

6 August 2017

8

Jill M Pulley

1 reference

6 August 2017

23

Lucia A Hindorff

1 reference

6 August 2017

26

Christopher G Chute

1 reference

6 August 2017

1

Joshua C Denny

1 reference

6 August 2017

22

Hua Xu

1 reference

6 August 2017

36

Dan M Roden

1 reference

6 August 2017

4

Robert J Carroll

1 reference

6 August 2017

27

Rex L Chisholm

1 reference

6 August 2017

14

Abel N Kho

1 reference

6 August 2017

17

David R Crosslin

1 reference

6 August 2017

32

Iftikhar J Kullo

1 reference

6 August 2017

20

Suzette J Bielinski

1 reference

6 August 2017

12

David S Carrell

1 reference

6 August 2017

30

Murray H Brilliant

1 reference

6 August 2017

35

Daniel R Masys

1 reference

6 August 2017

11

Melissa A Basford

1 reference

6 August 2017

5

Raquel Zink

1 reference

6 August 2017

7

Julie R Field

1 reference

6 August 2017

10

Erica Bowton

1 reference

6 August 2017

13

Peggy L Peissig

1 reference

6 August 2017

Andrea H Ramirez

9

1 reference

6 August 2017

Rongling Li

24

1 reference

6 August 2017

Eric B Larson

28

1 reference

6 August 2017

1 December 2013

1 reference

6 August 2017

1 reference

6 August 2017

31

1 reference

6 August 2017

1102-1110

1 reference

6 August 2017

12

1 reference

describes a project that uses

6 August 2017

genome-wide association study

1 reference

based on heuristic

inferred from title

exact match

https://scigraph.springernature.com/pub.10.1038/nbt.2749

0 references

cites work

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

A PheWAS approach in studying HLA-DRB1*1501.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Automated detection and classification of type 1 versus type 2 diabetes using electronic health record data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

What makes UK Biobank special?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Abundant pleiotropy in human complex diseases and traits.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Using Electronic Patient Records to Discover Disease Correlations and Stratify Patient Cohorts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Pervasive sharing of genetic effects in autoimmune disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

New IBD genetics: common pathways with other diseases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

The emerging role of electronic medical records in pharmacogenomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Quality control procedures for genome-wide association studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

The "meaningful use" regulation for electronic health records

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

METAL: fast and efficient meta-analysis of genomewide association scans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Principles of human subjects protections applied in an opt-out, de-identified biobank

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

A genome-wide association analysis of serum iron concentrations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Exploring clinical associations using '-omics' based enrichment analyses

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Human genetic variation and its contribution to complex traits

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

MHC fine mapping of human type 1 diabetes using the T1DGC data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Development of a large-scale de-identified DNA biobank to enable personalized medicine.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Increased hospital mortality in patients with bedside hippus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Probing genetic overlap among complex human phenotypes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

A common variant on chromosome 9p21 affects the risk of myocardial infarction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Automated encoding of clinical documents based on natural language processing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Inference of population structure using multilocus genotype data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

Casemix adjustment of managed care claims data using the clinical classification for health policy research method

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969265

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.2749

21 January 2018

Dyskeratosis Congenita

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.2749

Sample size requirements for association studies of gene-gene interaction

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.2749

Marshfield Clinic Personalized Medicine Research Project (PMRP): design, methods and recruitment for a large population-based biobank

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24270849

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NBT.2749

1 reference

6 August 2017

1 reference

6 August 2017

1 reference