Manuscripts in Progress

For the eMERGE Publications policy with acknowledgment template please click here

For up to date progress on the MCS please click on the tracking log here.

NT403: Targeted validation of MR instruments for varicose veins

Contact: Pradeep Suri
Concept Sheet

NT402: Identify disease causing factors for RA by high-throughput cluster analyses

Contact: Rachel Knevel
Concept Sheet

NT401: An evaluation of statin and the severity among Individuals with COVID-19

Contact: Wei-Qi Wei
Concept sheet

NT400: A phenome-wide association study to evaluate other effects of SARS-CoV-2 infection

Contact: Wei-Qi Wei
Concept Sheet

NT399: Technical needs and processes to integrating the MeTree family health history platform into the health system EHR

Contact: Lori Orlando
Concept Sheet

NT398: The Devil is in the details: Perspectives of health system stakeholders on implementing a standardized family health history tool into the electronic health record

Contact: Georgia Wiesner
Concept Sheet

NT397: Implementation of Family Health History into the health system: Recommendations for integrating MeTree platform into the EHR

Contact: Georgia Wiesner
Concept Sheet

NT396: Drug Mendelian randomization analyses to evaluate the effects of ACEI and ARB treatments in SARS-CoV-2 patients

Contact: Joe Breeyear
Concept Sheet

NT395: Natural language processing for system lupus erythematosus and its sub-phenotype identification using Electronic health records

Contact: Yu Deng
Concept Sheet

NT394: Neptune: An environment for the delivery of precision medicine

Contact: Eric Venner
Concept Sheet

NT393: Genome-wide meta-analysis for post-partum depression

Contact: Jerry Guintivano
Concept Sheet

NT392: Elucidating genetic architecture of maternal health phenotypes

Contact: Shefali Verma
Concept Sheet

NT391: Natural Language Processing and other Machine Learning Phenotyping Lessons Learned across the eMERGE network

Contact: Jennifer Pacheco
Concept Sheet

NT390: Survey responses of participants who received negative results

Contact: Melinda Aldrich
Concept Sheet

NT389: Survey responses of participants who received negative results

Contact: Hila Milo Rasouly & Julia Wynn
Concept Sheet

NT388: Data-driven Phenotyping and Prediction of LVEF Changes in Heart Failure Patients using Machine Learning

Contact: Prakash Adekkanattu
Concept Sheet

NT387: Polygenic risk for atrial fibrillation within the eMERGE III cohort

Contact: Konrad Teodor Sawicki
Concept Sheet

NT386: Genetic determinant of primary non-response to Anti-TNF therapy in patients with Inflammatory Bowel Disease

Contact: Jennifer Allen Pacheco and Tanima De
Concept Sheet

NT385: Genetics and pleiotropy of antinuclear antibodies and its contribution in lupus

Contact: Vivian Kawai
Concept Sheet

NT384: A GWAS study for overall cancer susceptibility across eMERGE network

Contact: Bahram Namjou
Concept Sheet

NT383: Unsupervised methods for deriving phenotypes from Electronic Health Records

Contact:Danqing Xu
Concept Sheet

NT382: Preeclampsia: Genome-Wide Association Study and Polygenic Risk Scores

Contact: Elizabeth Jasper
Concept Sheet

NT381:Supplemental analysis to ‘Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk’

Contact: Minta Thomas
Concept Sheet

NT380: Genomic Considerations for FHIR: Lessons from the eMERGE Implementation

Contact: Mullai Murugan
Concept Sheet

NT379: Assessing the frequencies of individual ACMG evidence criteria usage in clinical variant interpretation across self-reported race and disease domains

Contact:Meghan McKenna & Adam Gordon
Concept Sheet

NT378: Drug metabolism phenotypes of patients with rare or unknown VKOR and CYP2C9 variants

Contact: Melissa Chiasson
Concept Sheet

NT377: Defining the clinical phenome associated with genetic regulation of serum kynurenine levels

Contact: Minoo Bagheri
Concept Sheet

NT376:Heterozygous FH in the eMERGE Network: Penetrance, Outcomes and Cardiovascular Risk

Contact: Ozan Dikilitas
Concept Sheet

NT375:Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis – a phenome-wide association study and inverse-variance weighted meta-analysis

Contact: Vivian Kawai
Concept Sheet

NT374: Two-stage join analysis of top association for CAD in the Million Veteran Program

Contact: Catherine Tcheandjieu
Concept Sheet

NT373: Psychologic impact on participants of receiving positive genomic results in eMERGE 3

Contact: Ingrid Holm
Concept Sheet

NT372: Association of PRS for Lupus with Classification Criteria-Based Disease Attributes

Contact: Theresa Walunas
Concept Sheet

NT371: Placental Predicted Gene Expression Phenome-Wide Analysis

Contact: Todd Edwards and Jacklyn Hellwege
Concept Sheet

NT370: Trans-ethnic genome wide association study of sarcoidosis in eMERGE

Contact: Todd Edwards
Concept Sheet

NT369: Complex Survey Designs under Sampling Frame Misclassification

Contact: Aya Mitani
Concept Sheet

NT368: Automated knowledge alerts and variant reclassifications in eMERGE Phase III

Contact: Hana Zouk
Concept Sheet

NT367: Using Federated Learning to Train Embeddings for Phenotyping Across a Nationwide Research Network

Contact: Yuan Luo
Concept Sheet

NT366: Replication of GWAS signals from UK Biobank Respiratory Infection GWAS

Contact: Alex Williams
Concept Sheet

NT365: Predicting Gestational Age from Electronic Health Records and Linked Genetic Biobanks using Boosted Decision Trees

Contact: Abin Abraham
Concept Sheet

NT364: Associations between HMGCR genetic variations and non-cardiovascular effects

Contact: Ge Liu
Concept Sheet

NT363: Participants perceived clinical and personal utility of receiving positive genomic results in eMERGE III

Contact:Ingrid Holm
Concept Sheet

NT362: Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

Contact: Joseph Park
Concept Sheet

NT361: Genome-wide association of Nephrotic Syndrome

Contact: Jacklyn Hellwege
Concept Sheet

NT360: Multiethnic GWAS and PRS Development in Prostate Cancer

Contact: Todd Edwards
Concept Sheet

NT359: Identify pleiotropy between anthropometric traits and a wide range of traits and diseases from EHR

Lead Investigator: Anne Justice & Geetha Chittoor
Concept Sheet

NT358: A systematic evaluation of the transferability of polygenic risk score for breast cancer across diverse population and different geographic areas

Lead Investigator: Cong Liu & Nur Zeinomar
Concept Sheet

NT357: Lessons from the eMERGE Network: Balancing genomic discovery and implementation science.

Contact(s): Jodell Jackson/David Crosslin
Concept Sheet

NT356: The Association between Variants in Ion Channel Genes and Arrhythmia Phenotypes.

Lead Investigator: Ben Shoemaker
Concept Sheet

NT355: The Association between Variants in Long QT Syndrome Susceptibility Genes and ECG features.

Lead Investigator:Ben Shoemaker
Concept Sheet

NT354: Does clinical context expand the clinical implications of actionable genetic findings and high PRS scores?

Lead Investigator: Hila Rasouly
Concept Sheet

NT353: Development, refinement and validation of polygenic risk score incorporating family and environmental data for colorectal cancer in multiple ancestry data

Lead Investigator: Elisabeth A. Rosenthal
Concept Sheet

NT352: A case series of lessons from eMERGE on genomic implementation

Lead Investigator: Casey Overby Taylor
Concept Sheet

NT351: eMERGE PheWAS catalog of GWAS SNPs

Lead Investigator: Todd Edwards
Concept Sheet

NT350: Phenotypic signatures of genome-wide polygenic risk scores for complex traits.

Lead Investigator: Atlas Khan
Concept Sheet

NT349: Family communication following return of positive results

Lead Investigator: Hila Milo Rasouly & Julia Wynn
Concept Sheet

NT348: Mendelian randomization study of the association of lipid risk SNPs with the development of breast, prostate and other cancers

Lead Investigator(s): Daniel Lee & Shefali S. Verma
Concept Sheet

NT347: Project Title SIM1 Rare Variation Association with Erectile Dysfunction

Lead Investigator: Melody Palmer & Ian B. Stanaway
Concept Sheet

NT346: Genetics of Osteoarthritis Consortium

Lead Investigator: Yanfei Zhang
Concept Sheet

NT345: CCHMC top 6 gene- MC4R; A brief-report—Evaluation and Prevalence of MC4R Mutations Among emerge-seq Population

Lead Investigator: Bahram Namjou
Concept Sheet

NT344: Pleiotropic Associations Between Predicted JAK Pathway Genes’ Expression and the Clinical Phenome

Lead Investigator: Jacklyn Hellwege
Concept Sheet

NT343: Associations Between Sex-Specific Renal Function Polygenic Risk Scores and the Clinical Phenome by Sex

Lead Investigator: Jacklyn Hellwege
Concept Sheet

NT342: Comorbidity Clusters in Clinical Conditions An Analysis of Electronic Health Record Data

Lead Investigator: Ting He
Concept Sheet

NT341: Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned from ClinGen and eMERGE

Lead Investigator: Marc Williams
Concept Sheet

NT340: Sequencing Centers and eMERGE Site Interactions related to Return of Genomic Results in Phase III of the eMERGE Network

Lead Investigator: David Kochan
Concept Sheet

NT339: Phenotype risk scores identify patients at a high risk of hereditary cancer syndromes and improve variant interpretation

Lead Investigator: Chenjie Zeng and Lisa Bastarache
Concept Sheet

NT277.1: Operationalizing participant choices about genomic results: Beyond all or none ACMG recommended genes

Lead Investigator: Luke Rasmussen
Concept Sheet

NT338: Effect of genomic regulation on Clopidogrel Response in African Americans

Lead Investigator: Tanima De
Concept Sheet

NT337: Gender Genotype Analysis for Clinical Quality Assessment

Lead Investigator: Jianhong Hu
Concept Sheet

NT336: Detection of Mosaic Variants in the eMERGE and MyCode Projects

Lead Investigator: Sara Kalla
Concept Sheet

NT335: Evaluating the ‘Star Allele’ PGx nomenclature standard in the context of automated interpretation of panel, exome, and genome sequencing results

Lead Investigator: Adam Gordon
Concept Sheet

NT334: EHR And Genetic EoE Risk (EAGER): Integrating EHR and genetics to identify EoE risk and define subphenotypes

Lead Investigator: Anne Justice
Concept Sheet

NT333: Identifying similarities in tissue-specific transcriptomic architecture of lipid traits between humans and mice

Lead Investigator: Yogasudha Veturi
Concept Sheet

NT332: Network-wide lessons learned from the reporting of negative test results

Lead Investigator: Richard Sharp & Maureen Smith
Concept Sheet

NT331: GWAS for Lupus Identified with a Classification Criteria-Based Phenotyping Algorithm

Lead Investigator: Theresa Walunas
Concept Sheet

NT330: Approaches to the return of actionable adult-onset conditions in pediatric research: Lessons learned from eMERGE-3

Lead Investigator: Ingrid Holm
Concept Sheet

NT329: Framework for Assessing NLP-Based EHR Phenotype Algorithm Complexity

Lead Investigator: Yuan Luo
Concept Sheet

NT328: Genomic Data: Building a Path from Lab to Clinic

Lead Investigator: Nephi Walton
Concept Sheet

NT327: A Study of Phenotype Algorithm Portability

Lead Investigator: Ning Shang & Cong Liu
Concept Sheet

NT326: Psychiatric Manifestations of Variations in ACMG59 Genes

Lead Investigator: Y-C Feng
Concept Sheet

NT325: Early prediction of risk for Alzheimer’s disease and related dementia using data-driven, scalable analysis of electronic health records and genetic data.

Lead Investigator: Ji-Hwan Park
Concept Sheet

NT324: Replication of Million Veterans Program GWAS on Abdominal Aortic Aneurysm

Lead Investigator: Derek Klarin
Concept Sheet

NT323: Challenges in Returning Results in the eMERGE consortium

Lead Investigator: Colin Halverson
Concept Sheet

NT322: The Reckoning: What We Found After Return of Results for 25,000 eMERGE3 participants

Lead Investigator: Kathleen Leppig
Concept Sheet

NT321: Pleiotropic Associations Between a Uterine Leiomyoma Polygenic Risk Score (PRS) and the Clinical Phenome

Lead Investigator: Jacklyn N. Hellwege
Concept Sheet

NT320: Identify potential risk genes for common calcium kidney stones

Lead Investigator: Krzysztof Kiryluk
Concept Sheet

NT319: Use of Infobuttons to Find Answers to Clinician’s Questions in Clinical Genomics

Lead Investigator: Michael Watkins
Concept Sheet

NT318: Genetic variants associated with C.Difficile Infection (CDI)

Lead Investigator: Yanfei Zhang
Concept Sheet

NT317: ARBOR: An Identity and Security Solution for Clinical Reporting

Lead Investigator: Eric Venner & Mullai Murugan
Concept Sheet

NT316: Novel encoding method EDGE offers enhanced ability to identify genetic interactions

Lead Investigator: Molly Hall
Concept Sheet

NT315: Eliminating Genomic Medicine Research Barriers through Informatics: the eMERGE Network’s Resource Library and its Impact on Multi-Site Projects

Lead Investigator: Brandy Mapes & Luke Rasmussen
Concept Sheet

NT314: The Development of an Imputed Structural Variant Genomic Dataset and Association to Neurological and Alcohol Use Disorder Electronic Medical Record Phenotypes with Biobank Scale Subject Ascertainment

Lead Investigator: Ian Stanaway
Concept Sheet

NT313: Assess penetrance of cancer among mutations carriers for hereditary breast cancer genes

Lead Investigator: Katherine Crew
Concept Sheet

NT312: Genetic variants associated with Osteoarthritis (Pan-OA analysis)

Lead Investigator: Yanfei Zhang
Concept Sheet

NT311: Penetrance and outcome of pulmonary hypertension associated with germline BMPR2 mutations in a population based cohort

Lead Investigator: Na Zhu and Carrie Welch
Concept Sheet

NT310: Evaluate in silico prediction of pathogenicity of missense variants using sequence data and EHR phenotypes of the eMERGE III sequencing cohort

Lead Investigator: Haicang Zhang
Concept Sheet

NT309: An efficient algorithm for distributed analysis of pleiotrophy in Electronic Health Record data

Lead Investigator: Ruowang Li
Concept Sheet

NT308: Genome-wide association studies of spinal disorders and pain

Lead Investigator: Pradeep Suri
Concept Sheet

NT307: Risk of colorectal cancer and age of CRC onset associated with HFE C282Y/C282Y homozygosity

Lead Investigator: Gail Jarvik
Concept Sheet

NT306: Evaluating the utility of high-throughput functional scoring of BRCA1 missense variants in eMERGE-III participants

Lead Investigator: Adam Gordon
Concept Sheet

NT305: Genetic variants associated with metformin response and intolerance

Lead Investigator: Suzette J. Bielinski
Concept Sheet

NT304: Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in the eMERGE Network

Lead Investigator: Ozan Dikilitas
Concept Sheet

NT303: Classifying design patterns of EHR-driven phenotyping algorithms

Lead Investigator: Yizhen Zhong
Concept Sheet

NT302: eMERGE Harvard Site Top 6 Genes

Lead Investigator: Samira Asgari
Concept Sheet

NT301: IGNITE Clinical Informatics Working Group: Genetic Data Pipeline Project

Lead Investigator: Paul Dexter
Concept Sheet

NT300: Understanding the return of results process: Content review of patient summary letters

Lead Investigator: John  Lynch
Concept Sheet

NT299: Genetic Loci for Polycystic Ovary Syndrome (PCOS)

Lead Investigator: Yanfei Zhang & Kevin Ho
Concept Sheet

NT298: Association between variants in FBN1 and human height

Lead Investigator: S. Asgari
Concept Sheet

NT297: Creation of an OMOP-Based Phenotype Algorithm for Systemic Lupus Erythematosus (SLE)

Lead Investigator: Theresa Walunas
Concept Sheet

NT296: Collection and Analysis of Large-Scale Outcome Measures following Targeted Next Generation Sequencing

Lead Investigator: Josh Peterson
Concept Sheet

NT295: Exploring the Vagueness of Definitions in a Phenotype Algorithm

Lead Investigator: Anika Ghosh
Concept Sheet

NT294: Framework for Assessing EHR-Based Phenotype Algorithm Complexity

Lead Investigator: Luke Rasmussen
Concept Sheet

NT208.1: Genome wide association studies of developmental disorders for speech, language, and scholastic skills

Lead Investigator: Reyna Gordon
Concept Sheet

NT293: Discovery of candidate SNP biomarkers for predicting the risk for periprosthetic osteolysis and other adverse outcomes in joint arthroplasties

Lead Investigator: Yelizaveta (Lisa) Torosyan
Concept Sheet

NT247.2: Association of Obesity with Postoperative Complications Using Phenome-wide Association Studies and Mendelian Randomization

Lead Investigator: Jamie R. Robinson
Concept Sheet

NT292: Genome-wide association study of carotid artery atherosclerosis disease in eMERGE

Lead Investigator: Melody R. Palmer
Concept Sheet

NT291: How genomic patterns are linked to phenotypic patterns?

Lead Investigator: Shefali Setia Verma
Concept Sheet

NT290: Genetic risk factors for Intracerebral Hemorrhage and Subarachnoid Hemorrhage: A Meta-Analysis of Genome-Wide Association Studies

Lead Investigator: Sarah Pendergrass
Concept Sheet

NT289: Detecting pleiotropy across neurological disorders and cardiovascular diseases via multi-trait joint association analysis

Lead Investigator: Xinyuan Zhang
Concept Sheet

NT288: Identifying clinical phenotypes associated with genetically predicted TSH levels

Lead Investigator: Joe-Elie Salem
Concept Sheet

NT287: Concordance between pharmacogenomic results extracted from research generated whole exome sequencing data and a CLIA generated next generation sequencing platform

Lead Investigator: Rebecca Pulk
Concept Sheet

NT257: Replication of GWAS of Cisplatin-induced Ototoxicity

Lead Investigator: Eileen Dolan
Concept Sheet

NT286: Using genetic data in a Bayesian precision medicine framework to prioritize rheumatic disease diagnoses

Lead Investigator: Rachel Knevel
Concept Sheet

NT285: Phenotype risk score (PRS) to evaluate effects of TTR variants and phenotypic spectrum of transthyretin-related hereditary amyloidosis

Lead Investigator: Quinn Wells
Concept Sheet

NT214.1: EHR phenotyping of atopic dermatitis in adults using more detailed data including from NLP

Lead Investigator: Alona Furmanchuk
Concept Sheet

NT284: Validation of PharmCAT annotations

Lead Investigator: Anurag Verma
Concept Sheet

NT283: Genetic Architecture of Anxiety Disorders

Lead Investigator: John Connolly
Concept Sheet

NT282: Identifying pleiotropic effects in cardiovascular and neurological diseases using EHR data

Lead Investigator: Yogasudha Veturi
Concept Sheet

NT281: Atlas-CNV: Calling singe and multi-exon CNVs with low FDR from the eMERGE clinical gene targeted data

Lead Investigator: Theodore Chiang
Concept Sheet

NT247.1: Burden of Disease Associated with Extremes of Body Mass Index

Lead Investigator: Jamie Robinson
Concept Sheet

NT280: Discovery-based CNV Analyses of eMERGE-seq data

Lead Investigator: Patrick Sleiman
Concept Sheet

NT279: Pilot evaluation of ACGs for characterizing co-morbidities in eMERGE cohorts

Lead Investigator: Casey Overby Taylor
Concept Sheet

NT278.1: GWAS-PheWAS Approach to Infection-Associated Stroke

Lead Investigator: Neal Parikh
Concept Sheet

NT278: Genetic resistance to common life-threatening infections and its evolutionary effects on susceptibility to complex immune traits.

Lead Investigator: Atlas Khan & Ning Shang
Concept Sheet

NT277: Operationalizing participant choices about genomic results: Beyond all or none ACMG recommended genes

Lead Investigator: Christin Hoell & Cindy Prows
Concept Sheet

NT276: A Phenome-Wide Association Study of Obstructive Sleep Apnea Candidate Genes

Lead Investigator: Sarah Pendergrass
Concept Sheet

NT275: New Genetic Loci for Obstructive Sleep Apnea

Lead Investigator: Sarah Pendergrass
Concept Sheet

NT274: Harmonization of Genomic Medicine Outcomes: Comparison of eMERGE Outcomes to ClinGen Actionability Working Group Evidence-based Summaries

Lead Investigator: Janet Williams
Concept Sheet

NT273: Returning genomic results to eMERGE participants: The who, what, where, and how of disclosure

Lead Investigator: Georgia Wiesner
Concept Sheet

NT272: Design and testing of clinical decision support system for 59 ACMG genes included in the EMERGE-seq panel

Lead Investigator: Jordan Nestor
Concept Sheet

NT271: Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results

Lead Investigator: Iftikhar Kullo
Concept Sheet

NT270: Preferences for research updates among biobank participants

Lead Investigator: Casey Overby Taylor
Concept Sheet

NT269: Common and rare variant association of Opiod Addiction using the Network-wide eMERGE 3 cohort

Lead Investigator: Shawn Murphy
Concept Sheet

NT268: OMOP Information Model for eMERGE Phenotyping

Lead Investigator: George Hripscak
Concept Sheet

NT052: Colon Polyps

Lead Investigator: Laura Rasmussen-Torvik
Concept Sheet

NT267: PheWAS of 57 Variants with Prior NHGRI Catalog Phenotype Associations in the eMERGE PGx

Lead Investigator: Ian Stanaway
Concept Sheet

NT266: Development of ancestry specific polygenic risk scores and exploration of genetic-environmental interactions affecting vitamin D concentrations

Lead Investigator: Kathryn E. Hatchell
Concept Sheet

NT265: Shared and distinct genetics of childhood asthma and adult obstructive lung disease

Lead Investigator: Su H. Chu
Concept Sheet

NT264: A PheWAS approach to identify clinical correlates of rare variation within genes linked to Hereditary Spastic Paraplesia

Lead Investigator: Adam Gordon
Concept Sheet

NT263: Genetic risk for gout in patients with hyperuricemia

Lead Investigator: Rachel Knevel
Concept Sheet

NT262: Comparison of clinical interpretation of genetic variation in the eMERGEseq cohort using multiple methods

Lead Investigator: David Crosslin
Concept Sheet

NT261: Evaluating global and local ancestry and admixture across PheWAS phenotypes in eMERGE-III

Lead Investigator: Digna R. Velez Edwards and Soumya Raychaudhuri
Concept Sheet

NT260: Association of CYP2D6 genotypes in the eMERGE PGx Cohort with EHR-derived phenotypes

Lead Investigator: John Logan Black III
Concept Sheet

NT259: Replication of novel lipids-associated loci in eMERGE

Lead Investigator: Yao Hu
Concept Sheet

NT258: Phenotype risk scores to estimate phenotypic effects on rare variants

Lead Investigator: Lisa Bastarache
Concept Sheet

NT179: Pharmacogenetic variation identified via targeted next-generation sequencing among 9000 eMERGE subjects

Lead Investigator: Adam Gordon
Concept Sheet

NT256: Revealing hidden white blood cell count phenotypes for gene discovery: deep phenotyping with latent class mixed modeling.

Lead Investigator: Taryn O. Hall
Concept Sheet

NT255: Deep Phenotyping in electronic health records for facilitating diagnosis of genetic disorders

Lead Investigator: Chunhua Weng
Concept Sheet

NT254:  Association of Genes and Variants in the eMERGEseq Panel with LDL cholesterol and Triglyceride Levels

Lead Investigator: Xiao Fan
Concept Sheet

NT253: Evaluating global and local ancestry across PheWAS phenotypes in eMERGE

Lead Investigator: Jacob Keaton
Concept Sheet

NT252: Ancestry and admixture in the eMERGE-III cohort of 83,717 individuals

Lead Investigator: Xiao Fan
Concept Sheet

NT251: Epistasis of HLA with trans loci alleles

Lead Investigator: Ian Stanaway
Concept Sheet

NT250: PheWAS of ABO Blood Groups

Lead Investigator: Ian Stanaway
Concept Sheet

NT249: Association between pharmacogenetic polymorphism and urgent care utilization in people with polypharmacy

Lead Investigator: Joseph Finkelstein
Concept Sheet

NT248: Association Studies of Variants in KCNQ1, KCNH2, RYR2, SCN5A, ANK2, CACNA1C, and KCNE1 with arrhythmia and ECG phenotypes in 25,000 eMERGE 3 participants

Lead Investigator: Ben Shoemaker
Concept Sheet

NT247: Mendelian Randomization to Identify Phenotypes and Procedures Associated with BMI and Obesity

Lead Investigator: Jamie Robinson
Concept Sheet

NT246: Association Studies of Rare Variants in HNF1B, UMOD, WT1 and CFH and Known Risk Alleles with Chronic Kidney Disease in 25,000 eMERGE 3 participants

Lead Investigator: Miguel Verbitsky
Concept Sheet

NT245: Penetrance, cancer types, and outcomes of cancers associated with germline mutations in hereditary breast cancer genes and the impact of return of results of mutations for hereditary breast cancer on medical utilization and health outcomes.

Lead Investigator: Katherine Crew
Concept Sheet

NT244: Harmonizing the Sequencing and Interpretation Approach for the eMERGE III Return of Results Program

Lead Investigator: Richard Gibbs and Heidi Rehm
Concept Sheet

NT243: A comparison of genetic effects for migraine in children versus adults using eMERGE participants

Lead Investigator: Bahram Namjou
Concept Sheet

NT242: Clinical outcomes after screening for cardiomyopathy genes

Lead Investigator: Christin Hoell
Concept Sheet

NT241: Genome-wide Association Study of Chronic Rhinosinusitis in Adult population

Lead Investigator: Agnes Sundaresan
Concept Sheet

NT163: PGx Adverse Events

Date: Re-circulated: 6/21/2017; Originally submitted: 6/11/2015
Lead Investigator: Jared Erwin (UW)
Revised Concept Sheet

NT240: Identifying clinical phenotypes associated with genetic predictors of cardiac structure

Date: 6/20/2017
Lead Investigator: Jonathon Mosley
Concept Sheet

NT239: Identifying clinical phenotypes associated with echocardiographic indices of right heart structure and function

Date: 6/13/2017
Lead Investigator: Jonathon Mosley
Concept Sheet

NT238: Assessment of ~84,000 Participants Imputation Performance of 78 Genotype Chip Batches from 10 eMERGE Contributing Centers and the Effects of Imputation Quality Metric Stringency on Association Analyses

Date: 6/6/2017
Lead Investigator: Ian Stanaway
Concept Sheet

NT237: Association analysis of triglycerides with SLC25A40 sequence data in 25,000 eMERGE participants

Date: 6/5/2017
Lead Investigator: Elisabeth Rosenthal
Concept Sheet

NT236: Association analysis of neutrophil count with TCIRG1 sequence data in 25,000 eMERGE participants

Date: 6/2/2017
Lead Investigator: Elisabeth Rosenthal
Concept Sheet

NT235: Establishing a patient-specific disease model of an inherited arrhythmia reveals a general arrhythmogenic signaling pathway

Date: 5/22/2017
Lead Investigator: Kevin Bersell
Concept Sheet

NT234: GWAS of Medicare Risk Adjustment Model scores

Date: 5/22/2017
Lead Investigator: Scott Hebbring
Concept Sheet

NT233: PheWAS of Polycystic Ovary Syndrome (PCOS) GWAS loci in the electronic health records of 38,000 adult subjects in the eMERGE Consortium

Date: 5/10/2017
Lead Investigator: Yoonjung Joo
Concept Sheet

NT232: The Genetic Architecture of Severe and Familial Hypercholesterolemia

Date: 5/8/2017
Lead Investigator: Xian Fan
Concept Sheet

NT231: Age-specific effects of common genetic variants and human leukocyte antigen types

Date: 4/28/2017
Lead Investigator: Jeff Goldstein
Concept Sheet

NT230: APOB, PLTP, and PON1 eMERGEseq association with lipid and vascular phenotypes

Date: 4/27/2017
Lead Investigator: Melody Palmer
Concept Sheet

NT229: eMERGE GWAS for GIANT meta-analysis

Date: 4/26/2017
Lead Investigator: Yuki Bradford and Xinyuan Zhang
Concept Sheet

NT228: Genome-Wide Association Studies for Lipid Traits in the eMERGE network

Date: 4/25/2017
Lead Investigator: Molly Hall and Yogasudha Veturi
Concept Sheet

NT227: GWAS and PheWAS for acne gene discovery and comorbidity assessment

Date: 4/11/2017
Lead Investigator: Lynn Petukhova
Concept Sheet

NT226: Portable Precision Phenotype Algorithm for Chronic Rhinosinusitis with and without Nasal Polyps using the EHR

Date: 4/6/2017
Lead Investigator: Jennifer Pacheco
Concept Sheet

NT225: Consequences of human genetic variation in cellular traits on human disease

Date: 3/29/2017
Lead Investigator: Liuyang Wang
Concept Sheet

NT224: Institutional Review Board Responses to Targeted Genome Sequencing Projects in the eMERGE Network

Date: 3/28/2017
Lead Investigator: Robyn Fossey
Concept Sheet

NT223: Genetic studies of central centrifugal cicatricial alopecia

Date: 3/24/2017
Lead Investigator: Lynn Petukhova
Concept Sheet

NT222: Genetic assessment of neuropsychiatric and metabolic comorbidities among autoimmune disease patients

Date: 3/21/2017
Lead Investigator: Lynn Petukhova
Concept Sheet

NT221: Imputing tissue-specific gene expression for existing emerge genomic resources and perform phenotype specific expression analyses

Date: 3/15/2017
Lead Investigator: Bahram Namjou
Concept Sheet

NT220: HCPs Prospective Views on RoR in eIII

Date: 3/8/2017
Lead Investigator: Douglas Pet
Concept Sheet

NT219: MyResults.org Phase III Expansion

Date: 3/7/2017
Lead Investigator: John Connolly
Concept Sheet

NT218: In Silico Integration of Epidemiologic and Genetic Evidence on the Sex/Race-Related Modifying Effects on Hip Arthroplasty Outcomes.

Date: 3/6/2017
Lead Investigator: Yelizaveta (Lisa) Torosyan
Concept Sheet

NT217: Characterizing the costs of implementing genomic clinical decision support.

Date: 2/27/2017
Lead Investigator: Patrick Mathias
Concept Sheet

NT216: The relative impact of environmental and genetic factors on phenotypic expression of disease.

Date: 2/16/2017
Lead Investigator: Kathryn Jackson
Concept Sheet

NT215: EHR Phenotyping of Atopic Dermatitis in Adults using more detailed data including from NLP

Date: 2/15/2017
Lead Investigator: Erin Gustafson
Concept Sheet

NT214: Machine learning-based discovery of Atopic Dermatitis (AD) Sub-Populations in Adults

Date: 2/14/2017
Lead Investigator: Al’ona Furmanchuk
Concept Sheet

NT213: Infobutton Genomic Initiative Survey

Date: 2/9/2017
Lead Investigator: Casey Overby
Concept Sheet

NT212.1: A phenome-wide association study to discover pleiotropic effects of lipid metabolism genes (LPA).

Date: 2/2/2017
Lead Investigator: Ben Satterfield
Concept Sheet

NT212: A phenome-wide association study to discover pleiotropic effects of lipid metabolism genes (LDLR, APOB, PCSK9, and LPA).

Date: 2/2/2017
Lead Investigator: Maya Safarova
Concept Sheet

NT211: The Genetic Architecture of Auto-Inflammatory and Auto-Immune Diseases

Date: 1/31/2017
Lead Investigator: Patrick Sleiman
Concept Sheet

NT136: Genome-wide Association Study of Attention Deficit Hyperactivity Disorder (ADHD)

Date: 1/30/2017 (re-circulated)
Lead Investigator: Berta Castillo
Concept Sheet

NT117: PGRNseq and GWAS predictors of Methylphenidate (MPH) response

Date: 1/27/2017 (re-circulated)
Lead Investigator: Tanya Froehlich
Concept Sheet

NT210: Identifying relationship between obesity and post-operative complications through Mendelian randomization

Date: 1/24/2017
Lead Investigator: Tom Mou
Concept Sheet

NT209: 22Q11.2 Deletion Syndrome, Leveraging Copy Number Variation to Examine Health Outcomes

Date: 1/23/2017
Lead Investigator: Patrick Sleiman
Concept Sheet

NT208: New approaches to the genetic basis of developmental language disorder

Date: 1/20/2017
Lead Investigator: Reyna Gordon
Concept Sheet

NT207: CNV Association of quantitative and discreet traits across eMERGE-II/III array and PGRNSeq datasets

Date: 1/18/2017
Lead Investigator: Joseph Glessner
Concept Sheet

NT206: Outcomes in Asthma Patients Treated in Accordance with NHLBI Guidelines

Date: 1/18/2017
Lead Investigator: Nikita Sood
Concept Sheet

NT044: Genome Wide Association of Risk of Heart Failure: The Electronic Medical Records and Genomics (eMERGE) Network.

Date: 1/16/2017 (re-circulated)
Lead Investigator: Suzette Bielinski
Concept Sheet

NT205: Identifying clinical phenotypes associated with serum protein and metabolite levels

Date: 12/8/2016
Lead Investigator: Jonathan Mosley
Concept Sheet

NT204: Decentralized and HIPPA Compliant Geocoding to Characterize Community and Environmental Exposures for Multi-Site Studies

Date: 12/5/2016
Lead Investigator: Cole Brokamp and Patrick Ryan
Concept Sheet

NT203: A genetic association study of benign prostatic hyperplasia (BPH) in the eMERGE Network

Date: 11/10/2016
Lead Investigator: Todd Edwards and Digna Velez Edwards
Concept Sheet

NT202: Incidental and secondary Findings (IFs) in 10,000 eMERGE participants

Date: 11/8/2016
Lead Investigator: Adam Gordon
Concept Sheet

NT199: GWAS of MACE While On Statins

Date: 10/18/2016
Lead Investigator: Wei-Qi Wei
Concept Sheet

NT198: AutoImmuneMERGE – PheWAS for major Auto-Immune Diseases, whole genome sequencing

Date: 10/12/2016
Lead Investigator: Rachel Knevel
Concept Sheet

NT197: ENCODE-eMERGE collaboration for blood cell traits

Date: 10/11/2016
Lead Investigator: Robert Klein
Concept Sheet

NT196: Lipid Distribution in the Pediatric Population

Date: 10/5/2016
Lead Investigator: Agnes Sundaresan
Concept Sheet

NT195: Pulm_eMERGE” Common and rare variant association of respiratory phenotypes derived from ICD9&10 codes using the network-wide eMERGE cohorts

Date: 10/4/2016
Lead Investigator: Jessica Lasky Su
Concept Sheet

NT194: NLP algorithm development and GWAS study for Eosinophilic Esophagitis (EoE) using eMERGE subjects

Date: 9/29/2016
Lead Investigator: Bahram Namjou
Concept Sheet

NT193: A Machine Learning Approach to EHR Phenotyping of (Migraine & other) Headaches in Adults

Date: 9/16/2016
Lead Investigator: Jen Pacheco
Concept Sheet

NT191: Linking biomarkers to clinical phenotypes based on underlying genetic risk

Date: 8/19/2016
Lead Investigator: Jonathan Mosley
Concept Sheet

NT190: Common and rare variation associated with headache in eMERGE 3

Date: 7/18/2016
Lead Investigator: Laura Rasmussen Torvik
Concept Sheet

NT189: Common and rare variation associated with valvular disease in eMERGE 3

Date: 7/18/2016
Lead Investigator: Laura Rasmussen Torvik
Concept Sheet

NT188: MEdicine Gene Annotation (MEGA): A REDCap based tool to support consensus variant interpretation

Date: 7/18/2016
Lead Investigator: Wayne Liang
Concept Sheet

NT187: PheWAS for functional variants in the complement system.

Date: 7/12/2016
Lead Investigator: Krzysztof Kiryluk
Concept Sheet

NT186: Genomics of structural kidney and urinary tract defects.

Date: 6/27/2016
Lead Investigator: Miguel Verbitsky
Concept Sheet

NT185: PsycheMERGE

Date: 6/15/2016
Lead Investigator: Jordan Smoller
Concept Sheet

NT183:Linking 25,000 eMERGE participants with highly-accurate imputed HLA regions to electronic health records

Date: 5/31/2016
Lead Investigator: David Crosslin
Concept Sheet

NT182: PhEMA phenotyping authoring tool validation with eMERGE BPH case algorithm as use/test case

Date: 5/27/2016
Lead Investigator: Jen Pacheco and Sarah Stallings
Concept Sheet

NT181: Broad consent and data sharing in biobank research: An eMERGE Network Study of Parent Perspectives

Date: 3/23/2016
Lead Investigator: Armand Antommaria
Concept Sheet

NT180: A Phenome-wide Survey of the Phenotypic Effects of High-Frequency Human-Derived Alleles

Date: 2/24/2016
Lead Investigator: Corrine Simonti
Concept Sheet

NT179: Pharmacogenetic variation identified via targeted next-generation sequencing among 9000 eMERGE subjects

Date: 2/9/2016
Lead Investigator: Adam Gordon
Concept Sheet

NT178: Comprehensive genetic association study of kidney traits across the EMERGE network

Date: 1/21/2016
Lead Investigator: Nikol Mladkova
Concept Sheet

NT177: Detection of copy number variants (CNVs) and their kidney disease associations across the EMERGE network

Date: 1/21/2016
Lead Investigator: Miguel Verbitsky
Concept Sheet

NT176: Combined GWAS-PheWAS Approach to Serologic Markers of Autoimmunity & Inflammation

Date: 1/21/2016
Lead Investigator: Nikol Mladkova
Concept Sheet

NT174: Knowledge driven rare variant PheWAS in eMERGE to identify regions associated with disease using collapsing based approach

Date: 12/14/2015
Lead Investigator: Anna O Basile
Concept Sheet

NT173: GWAS study on non-alcoholic fatty liver disease (NAFLD) in pediatric and adult population: comparison of size effect between adult and children using participants of the eMERGE Network.

Date: 11/3/2015
Lead Investigator: Bahram Namjou
Concept Sheet

NT172: The identification and reporting of actionable incidental genetic variants from large scale clinical sequencing of drug response genes.

Date: 10/16/2015
Lead Investigator: Quinn S. Wells
Concept Sheet

NT171: Possible somatic mutations in targeted sequence data

Date: 10/8/2015
Lead Investigator: Ken Kaufman
Concept Sheet

NT170: Feasibility of using geocoding as proxy for socioeconomic status in T2DM and obesity investigations

Date: 8/3/2015
Lead Investigator: Kathryn Jackson
Concept Sheet

NT169: A targeted sampling scheme utilizing both EHR and census information

Date: 7/15/2015
Lead Investigator: Nathaniel Mercaldo
Concept Sheet

NT164: Intractable Epilepsy

Date: 6/17/2015
Lead Investigator: Berta Castillo (CHOP)
Concept Sheet

NT158: Patient education in returning results

Date: 5/26/2015
Lead Investigator: Cassandra Perry (BCH)
Concept Sheet

NT157: An investigation of somatic mutations in PGx-eMERGE dataset

Date: 5/18/2015
Lead Investigator: Kenneth Kaufman (CCHMC)
Concept Sheet

NT156: A phenome-wide association study to discover pleiotropic effects of PCSK9

Date: 5/6/2015

Lead Investigator: Maya S. Safarova (Mayo)

Concept Sheet

NT155: Clinical Decision Support for Pharmacogenomics – Results from the eMERGE Network

Date: 4/23/2015

Lead Investigator: Tim Herr (NU)

Concept Sheet

NT153: Multi-site IRB review – experience of the eMERGE Network

Date: 4/13/2015

Lead Investigator: Jen McCormick (Mayo)

Concept Sheet

NT87: Copy number variation burden analysis on a range of phenotypes in the eMERGE network