Frontiers in Genetics | Applied Genetic Epidemiology

Original Research

Published on 11 Dec 2014

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

in Applied Genetic Epidemiology

Shefali S. Verma
Mariza de Andrade
Gerard Tromp
Helena Kuivaniemi
Elizabeth Pugh
Bahram Namjou-Khales
Shubhabrata Mukherjee
Gail P. Jarvik
Leah C. Kottyan
Amber Burt

Frontiers in Genetics

doi 10.3389/fgene.2014.00370

42,066 views
131 citations

Original Research

Published on 18 Nov 2014

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts

in Applied Genetic Epidemiology

Bahram Namjou
Keith Marsolo
Robert Carroll
Joshua Denny
Marylyn D Ritchie
shefali setia
Todd Lingren
Aleksey Porollo
Beth cobb
Cassandra Perry

Frontiers in Genetics

doi 10.3389/fgene.2014.00401

14,647 views
80 citations

Original Research

Published on 04 Nov 2014

Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records

in Applied Genetic Epidemiology

David R. Crosslin
Gerard Tromp
Amber Burt
Daniel S. Kim
Shefali S. Verma
Anastasia M. Lucas
Yuki Bradford
Dana C. Crawford
Sebastian M. Armasu
John A. Heit

Frontiers in Genetics

doi 10.3389/fgene.2014.00352

8,926 views
17 citations

General Commentary

Published on 09 Oct 2014

Corrigendum: Analysis pipeline for the epistasis search – statistical versus biological filtering

in Applied Genetic Epidemiology

Shubhabrata Mukherjee

Frontiers in Genetics

doi 10.3389/fgene.2014.00350

4,790 views

Original Research

Published on 05 Aug 2014

Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip

in Applied Genetic Epidemiology

Ankita Parihar
G. Craig Wood
Xin Chu
Qunjan Jin
George Argyropoulos
Christopher D. Still
Alan R. Shuldiner
Braxton D. Mitchell
Glenn S. Gerhard

Frontiers in Genetics

doi 10.3389/fgene.2014.00222

6,633 views
7 citations

Original Research

Published on 05 Aug 2014

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

in Applied Genetic Epidemiology

Robert M. Cronin
Julie R. Field
Yuki Bradford
Christian M. Shaffer
Robert J. Carroll
Jonathan D. Mosley
Lisa Bastarache
Todd L. Edwards
Scott J. Hebbring
Simon Lin

Frontiers in Genetics

doi 10.3389/fgene.2014.00250

14,039 views
70 citations

Methods

Published on 01 Aug 2014

Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example

in Applied Genetic Epidemiology

Benjamin A. Goldstein
Joshua W. Knowles
Elias Salfati
John P. A. Ioannidis
Themistocles L. Assimes

Frontiers in Genetics

doi 10.3389/fgene.2014.00254

11,891 views
52 citations

Methods

Published on 01 Jul 2014

An alternative hypothesis testing strategy for secondary phenotype data in case-control genetic association studies

in Applied Genetic Epidemiology

Sharon M. Lutz
John E. Hokanson
Christoph Lange

Frontiers in Genetics

doi 10.3389/fgene.2014.00188

4,788 views
11 citations

Original Research

Published on 25 Jun 2014

The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

in Applied Genetic Epidemiology

Iftikhar J. Kullo
Khader Shameer
Hayan Jouni
Timothy G. Lesnick
Jyotishman Pathak
Christopher G. Chute
Mariza de Andrade

Frontiers in Genetics

doi 10.3389/fgene.2014.00166

8,430 views
46 citations

Review

Published on 17 Jun 2014

eMERGEing progress in genomics—the first seven years

in Applied Genetic Epidemiology

Dana C. Crawford
David R. Crosslin
Gerard Tromp
Iftikhar J. Kullo
Helena Kuivaniemi
M. Geoffrey Hayes
Joshua C. Denny
William S. Bush
Jonathan L. Haines
Dan M. Roden

Frontiers in Genetics

doi 10.3389/fgene.2014.00184

11,022 views
75 citations

Review

Published on 02 Jun 2014

Genetic-based prediction of disease traits: prediction is very difficult, especially about the future†

in Applied Genetic Epidemiology

Steven J. Schrodi
Shubhabrata Mukherjee
Ying Shan
Gerard Tromp
John J. Sninsky
Amy P. Callear
Tonia C. Carter
Zhan Ye
Jonathan L. Haines
Murray H. Brilliant

Frontiers in Genetics

doi 10.3389/fgene.2014.00162

35,668 views
66 citations

Original Research

Published on 12 May 2014

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes

in Applied Genetic Epidemiology

Berta Almoguera
Lyam Vazquez
John J. Connolly
Jonathan Bradfield
Patrick Sleiman
Brendan Keating
Hakon Hakonarson

Frontiers in Genetics

doi 10.3389/fgene.2014.00096

7,225 views
20 citations

Original Research

Published on 09 May 2014

Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections

in Applied Genetic Epidemiology

Zhan Ye
Daniel A. Vasco
Tonia C. Carter
Murray H. Brilliant
Steven J. Schrodi
Sanjay K. Shukla

Frontiers in Genetics

doi 10.3389/fgene.2014.00125

11,912 views
42 citations

Mini Review

Published on 30 Apr 2014

Analysis pipeline for the epistasis search – statistical versus biological filtering

in Applied Genetic Epidemiology

Xiangqing Sun
Qing Lu
Shubhabrata Mukherjee
Paul K. Crane
Robert Elston
Marylyn D. Ritchie

Frontiers in Genetics

doi 10.3389/fgene.2014.00106

9,586 views
66 citations

Methods

Published on 29 Apr 2014

Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN)

in Applied Genetic Epidemiology

Braxton D Mitchell
Myriam Fornage
Patrick F. McArdle
Yu-Ching Cheng
Sara Pulit
Quenna Wong
Tushar Dave
Stephen R Williams
Roderick Corriveau
Katrina Gwinn

Frontiers in Genetics

doi 10.3389/fgene.2014.00095

11,201 views
35 citations

Original Research

Published on 29 Apr 2014

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

in Applied Genetic Epidemiology

Patrick Sleiman
Jonathan Bradfield
Frank Mentch
Berta Almoguera
John Connolly
Hakon Hakonarson

Frontiers in Genetics

doi 10.3389/fgene.2014.00105

8,926 views
4 citations

Review

Published on 26 Mar 2014

Return of results in the genomic medicine projects of the eMERGE network

in Applied Genetic Epidemiology

Iftikhar J. Kullo
Ra'ad Haddad
Cynthia A. Prows
Ingrid Holm
Saskia C. Sanderson
Nanibaa' A. Garrison
Richard R. Sharp
Maureen E. Smith
Helena Kuivaniemi
Erwin P. Bottinger

Frontiers in Genetics

doi 10.3389/fgene.2014.00050

16,580 views
40 citations

Review

Published on 18 Mar 2014

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

in Applied Genetic Epidemiology

John J Connolly
Joseph T Glessner
Berta Almoguera
David R Crosslin
Gail P Jarvik
Patrick Sleiman
Hakon Hakonarson

Frontiers in Genetics

doi 10.3389/fgene.2014.00051

11,774 views
12 citations

Original Research

Published on 13 Feb 2014

Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk

in Applied Genetic Epidemiology

Jason Willis
Semanti Mukherjee
Irene Orlow
Agnes Viale
Kenneth Offit
Robert C Kurtz
Sara Olson
Robert Klein

Frontiers in Genetics

doi 10.3389/fgene.2014.00029

10,751 views
15 citations

Methods

Published on 12 Feb 2014

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors

in Applied Genetic Epidemiology

Zubin Hasmukh Patel
Leah Claire Kottyan
Sara Lazaro
Marc S. Williams
David H. Ledbetter
Gerard Tromp
Andrew Rupert
Mojtaba Kohram
Michael Wagner
Ammar Husami

Frontiers in Genetics

doi 10.3389/fgene.2014.00016

20,418 views
52 citations

Original Research

Published on 10 Feb 2014

Associations of adiponectin with individual European ancestry in African Americans: the Jackson Heart Study

in Applied Genetic Epidemiology

Aurelian Bidulescu
Shweta Choudhry
Solomon K Musani
Sarah G Buxbaum
Jiankang Liu
Charles N Rotimi
James G Wilson
Herman A Taylor
Gary H Gibbons

Frontiers in Genetics

doi 10.3389/fgene.2014.00022

28,613 views
14 citations

Perspective

Published on 06 Feb 2014

Assessing the quality of studies supporting genetic susceptibility and outcomes of ARDS

in Applied Genetic Epidemiology

Marialbert Acosta-Herrera
Maria Pino-Yanes
Lina Perez-Mendez
Jesus Villar
Carlos Flores

Frontiers in Genetics

doi 10.3389/fgene.2014.00020

6,695 views
23 citations

Original Research

Published on 16 Dec 2013

Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans

in Applied Genetic Epidemiology

Venkata Saroja Voruganti
Jack W Kent
Subrata Debnath
Shelley A Cole
Karin Haack
Harald HH Goring
Melanie A Carless
Joanne E Curran
Matthew P Johnson
Laura Almasy

Frontiers in Genetics

doi 10.3389/fgene.2013.00279

9,559 views
31 citations

Original Research

Published on 03 Dec 2013

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

in Applied Genetic Epidemiology

Bahram Namjou
Mehdi Keddache
keith marsolo
michael wagner
todd lingren
Beth Cobb
cassandra perry
stephanie kennebeck
Ingrid A Holm
Rongling Li

Frontiers in Genetics

doi 10.3389/fgene.2013.00268

9,248 views
45 citations

444 articles

articles

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

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts

Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records

Corrigendum: Analysis pipeline for the epistasis search – statistical versus biological filtering

Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip

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

Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example

An alternative hypothesis testing strategy for secondary phenotype data in case-control genetic association studies

The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

eMERGEing progress in genomics—the first seven years

Genetic-based prediction of disease traits: prediction is very difficult, especially about the future†

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes

Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections

Analysis pipeline for the epistasis search – statistical versus biological filtering

Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN)

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

Return of results in the genomic medicine projects of the eMERGE network

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors

Associations of adiponectin with individual European ancestry in African Americans: the Jackson Heart Study

Assessing the quality of studies supporting genetic susceptibility and outcomes of ARDS

Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children