Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record  Marylyn D. Ritchie, Joshua C. Denny, Dana.

Slides:



Advertisements
Similar presentations
PGPop: PharmacoGenomic discovery and replication in very large patient POPulations PGPop: SUMMARY PGPop was conceived as a network resource to provide.
Advertisements

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene  Eveliina Jakkula, Virpi Leppä,
Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis    The Lancet Diabetes &
Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis 
Marc A. Coram, Huaying Fang, Sophie I. Candille, Themistocles L
Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis    The Lancet Diabetes &
Model-free Estimation of Recent Genetic Relatedness
CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies 
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
Alicia R. Martin, Christopher R. Gignoux, Raymond K
Comparing Algorithms for Genotype Imputation
Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies 
Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data  Goo Jun, Matthew Flickinger, Kurt N. Hetrick,
Estimating Kinship in Admixed Populations
Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population  S. Maeda, N. Osawa, T. Hayashi, S. Tsukada, M.
Improved Heritability Estimation from Genome-wide SNPs
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger  Anurag Verma,
Rounak Dey, Ellen M. Schmidt, Goncalo R. Abecasis, Seunggeun Lee 
Volume 379, Issue 9822, Pages (March 2012)
Weight Loss after Gastric Bypass Is Associated with a Variant at 15q26
10 Years of GWAS Discovery: Biology, Function, and Translation
Increased risk of incident chronic medical conditions in infertile men: analysis of United States claims data  Michael L. Eisenberg, M.D., Shufeng Li,
XMCPDT Does Have Correct Type I Error Rates
Engineering a New Mouse Model for Vitiligo
HYST: A Hybrid Set-Based Test for Genome-wide Association Studies, with Application to Protein-Protein Interaction-Based Association Analysis  Miao-Xin.
Xiangqing Sun, Robert Elston, Nathan Morris, Xiaofeng Zhu 
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Selection and Reduced Population Size Cannot Explain Higher Amounts of Neandertal Ancestry in East Asian than in European Human Populations  Bernard Y.
Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations  Wenqing Fu, Rachel M. Gittelman, Michael J. Bamshad,
Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets  Xinli Hu, Hyun Kim, Eli Stahl, Robert Plenge,
Christoph Lange, Nan M. Laird  The American Journal of Human Genetics 
10 Years of GWAS Discovery: Biology, Function, and Translation
Johanna Jakobsdottir, Mary Sara McPeek 
Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles  Francisco X. Arredondo-Vega, Ines Santisteban,
Highly Punctuated Patterns of Population Structure on the X Chromosome and Implications for African Evolutionary History  Charla A. Lambert, Caitlin F.
The SNP Endgame: A Multidisciplinary Approach*
Shuhua Xu, Wei Huang, Ji Qian, Li Jin 
Erratum The American Journal of Human Genetics
Pritam Chanda, Aidong Zhang, Daniel Brazeau, Lara Sucheston, Jo L
Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase  Daniel Shriner, Charles N. Rotimi  The.
Christina L. Klein, MD, Daniel C. Brennan, MD, FACP 
Benjamin A. Rybicki, Robert C. Elston 
A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals  Brian L. Browning, Sharon.
Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information  Tasha E. Fingerlin,
Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations  Dana C. Crawford,
Wei Pan, Il-Youp Kwak, Peng Wei  The American Journal of Human Genetics 
Jared R. Kohler, David J. Cutler 
L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals  Xiaowei Wu, Mary Sara McPeek 
KLOTHO Allele Status and the Risk of Early-Onset Occult Coronary Artery Disease  Dan E. Arking, Diane M. Becker, Lisa R. Yanek, Daniele Fallin, Daniel.
Xiang Wan, Can Yang, Qiang Yang, Hong Xue, Xiaodan Fan, Nelson L. S
Complex History of Admixture between Modern Humans and Neandertals
Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes
Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci  Eilis Hannon, Mike Weedon, Nicholas Bray,
Yu Zhang, Tianhua Niu, Jun S. Liu 
Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases  Hugues Aschard, Jinbo.
Evaluating the Effects of Imputation on the Power, Coverage, and Cost Efficiency of Genome-wide SNP Platforms  Carl A. Anderson, Fredrik H. Pettersson,
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues  Xuanyao Liu, Hilary K. Finucane, Alexander Gusev,
Genetic Basis of Autoantibody Positive and Negative Rheumatoid Arthritis Risk in a Multi-ethnic Cohort Derived from Electronic Health Records  Fina Kurreeman,
Harold A. Nieuwboer, René Pool, Conor V. Dolan, Dorret I
Alice S. Whittemore, Jerry Halpern 
Quanhe Yang, W. Dana Flanders, Ramal Moonesinghe, John P. A
Quiz page December 2003 American Journal of Kidney Diseases
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
Michael P. Epstein, Richard Duncan, Erin B. Ware, Min A
Presentation transcript:

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record  Marylyn D. Ritchie, Joshua C. Denny, Dana C. Crawford, Andrea H. Ramirez, Justin B. Weiner, Jill M. Pulley, Melissa A. Basford, Kristin Brown-Gentry, Jeffrey R. Balser, Daniel R. Masys, Jonathan L. Haines, Dan M. Roden  The American Journal of Human Genetics  Volume 86, Issue 4, Pages 560-572 (April 2010) DOI: 10.1016/j.ajhg.2010.03.003 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Identifying Cases and Controls The numbers presented are for European American subjects, with a definite diagnosis. Table S2 presents the numbers for other groupings studied here. The American Journal of Human Genetics 2010 86, 560-572DOI: (10.1016/j.ajhg.2010.03.003) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Odds Ratios for Comparisons of Cases versus Controls for Each SNP Evaluated These are ordered by the number of cases required for replication (“number needed” column), calculated from the previously reported odds ratio (ORPR, red square; see text). The blue diamonds indicate the point estimate of the allelic OR derived from the present analysis. The error bars indicate the confidence interval of the allelic OR derived from the present analysis. This analysis used only definite cases in which European ancestry had been assigned. AF, atrial fibrillation; CD, Crohn disease; MS, multiple sclerosis; RA, rheumatoid arthritis; T2D, type 2 diabetes. The American Journal of Human Genetics 2010 86, 560-572DOI: (10.1016/j.ajhg.2010.03.003) Copyright © 2010 The American Society of Human Genetics Terms and Conditions