Wei Pan, Il-Youp Kwak, Peng Wei  The American Journal of Human Genetics 

Slides:



Advertisements
Similar presentations
Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Advertisements

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
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.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
Genetic Landscape of Eurasia and “Admixture” in Uyghurs
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Rapid Simulation of P Values for Product Methods and Multiple-Testing Adjustment in Association Studies  S.R. Seaman, B. Müller-Myhsok  The American Journal.
K. Alaine Broadaway, David J. Cutler, Richard Duncan, Jacob L
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 
Comparing Algorithms for Genotype Imputation
Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L
Henry R. Johnston, David J. Cutler 
Huwenbo Shi, Nicholas Mancuso, Sarah Spendlove, Bogdan Pasaniuc 
Haplotype Estimation Using Sequencing Reads
Linkage Thresholds for Two-stage Genome Scans
Miao-Xin Li, Hong-Sheng Gui, Johnny S.H. Kwan, Pak C. Sham 
So Many Correlated Tests, So Little Time
The Post-GWAS Era: From Association to Function
Improved Heritability Estimation from Genome-wide SNPs
Zheng-Zheng Tang, Dan-Yu Lin  The American Journal of Human Genetics 
Rounak Dey, Ellen M. Schmidt, Goncalo R. Abecasis, Seunggeun Lee 
Elizabeth Theusch, Analabha Basu, Jane Gitschier 
XMCPDT Does Have Correct Type I Error Rates
HYST: A Hybrid Set-Based Test for Genome-wide Association Studies, with Application to Protein-Protein Interaction-Based Association Analysis  Miao-Xin.
Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data  Gao T. Wang, Bo Peng, Suzanne M. Leal  The.
A Flexible Bayesian Framework for Modeling Haplotype Association with Disease, Allowing for Dominance Effects of the Underlying Causative Variants  Andrew.
A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits  Samsiddhi.
Transethnic Genetic-Correlation Estimates from Summary Statistics
Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies  Hugues Aschard, Bjarni J. Vilhjálmsson,
Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome- wide Association Studies  Buhm Han, Eleazar Eskin  The American Journal.
Meta-analysis of Correlated Traits via Summary Statistics from GWASs with an Application in Hypertension  Xiaofeng Zhu, Tao Feng, Bamidele O. Tayo, Jingjing.
Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS  Xin He, Chris K. Fuller, Yi Song, Qingying Meng, Bin Zhang,
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS.
Family-Based Association Studies for Next-Generation Sequencing
Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher 
Alkes L. Price, Gregory V. Kryukov, Paul I. W. de Bakker, Shaun M
Structural Architecture of SNP Effects on Complex Traits
Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression 
Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies 
Genotype Imputation with Millions of Reference Samples
Five Years of GWAS Discovery
Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent  Sharon R. Browning, Brian L. Browning  The.
Hugues Aschard, Bjarni J. Vilhjálmsson, Amit D. Joshi, Alkes L
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test  Michael C. Wu, Seunggeun Lee, Tianxi Cai, Yun Li, Michael.
Dan-Yu Lin, Zheng-Zheng Tang  The American Journal of Human Genetics 
The SNP Endgame: A Multidisciplinary Approach*
Erratum The American Journal of Human Genetics
Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant Associations  Dajiang J. Liu, Suzanne M. Leal  The.
A Versatile Gene-Based Test for Genome-wide Association Studies
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes  Brian H. Shirts, Eric Q. Konnick, Sarah Upham, Tom Walsh, John Michael.
Powerful Multilocus Tests of Genetic Association in the Presence of Gene-Gene and Gene-Environment Interactions  Nilanjan Chatterjee, Zeynep Kalaylioglu,
L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals  Xiaowei Wu, Mary Sara McPeek 
Interpretation of Association Signals and Identification of Causal Variants from Genome- wide Association Studies  Kai Wang, Samuel P. Dickson, Catherine.
Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data  Zihuai.
Xiang Wan, Can Yang, Qiang Yang, Hong Xue, Xiaodan Fan, Nelson L. S
Efficient Computation of Significance Levels for Multiple Associations in Large Studies of Correlated Data, Including Genomewide Association Studies 
Detection and Integration of Genotyping Errors in Statistical Genetics
Alice S. Whittemore, Jerry Halpern 
Estimating SNP-Based Heritability and Genetic Correlation in Case-Control Studies Directly and with Summary Statistics  Omer Weissbrod, Jonathan Flint,
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish.
Presentation transcript:

A Powerful Pathway-Based Adaptive Test for Genetic Association with Common or Rare Variants  Wei Pan, Il-Youp Kwak, Peng Wei  The American Journal of Human Genetics  Volume 97, Issue 1, Pages 86-98 (July 2015) DOI: 10.1016/j.ajhg.2015.05.018 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 Empirical Power for Simulation Set-up B with a Pathway of 20 Genes One gene included one causal SNP. (A and C) Each gene contained 1–20 independent (A) or correlated (C) SNPs. (B) Each gene contained 3–100 independent SNPs. (D) Each gene contained 1–20 correlated SNPs and the causal SNP was excluded in analysis. The American Journal of Human Genetics 2015 97, 86-98DOI: (10.1016/j.ajhg.2015.05.018) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 2 Empirical Power for Simulation Set-up C with a Pathway of 20 Genes Five genes each included one causal SNP. (A and C) Each gene contained 1–20 independent (A) or correlated (C) SNPs. (B) Each gene contained 3–100 independent SNPs. (D) Each gene contained 1–20 correlated SNPs and the causal SNP was excluded in analysis. The American Journal of Human Genetics 2015 97, 86-98DOI: (10.1016/j.ajhg.2015.05.018) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 3 Empirical Power for Simulation Set-up D with a Pathway of 20 Genes Ten genes each included one to three causal SNPs. (A and C) Each gene contained 1–20 independent (A) or correlated (C) SNPs. (B) Each gene contained 3–100 independent SNPs. (D) Each gene contained 1–20 correlated SNPs and the causal SNP was excluded in analysis. The American Journal of Human Genetics 2015 97, 86-98DOI: (10.1016/j.ajhg.2015.05.018) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 4 Empirical Power for Simulation Set-up D′ with a Pathway Containing 20 Genes Ten genes each included one to three causal SNPs. (A and C) Each gene contained 1–20 independent (A) or correlated (C) SNPs. (B) Each gene contained 3–100 independent SNPs. (D) Each gene contained 1–20 correlated SNPs and the causal SNP was excluded in analysis. The American Journal of Human Genetics 2015 97, 86-98DOI: (10.1016/j.ajhg.2015.05.018) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 5 Empirical Power for Simulation Set-ups E and F with a Pathway Containing 40 and 80 Genes, Respectively Ten genes each included 1–3 causal SNPs, and each gene contained 1–20 correlated SNPs. Set-up E with a pathway of 40 genes (A) and set-up F with a pathway of 80 genes (B) are shown. The American Journal of Human Genetics 2015 97, 86-98DOI: (10.1016/j.ajhg.2015.05.018) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 6 Empirical Power for RVs in Simulation Set-up D2 with a Pathway Containing 20 Genes Ten genes each included one causal RV. Each gene contained 1–20 independent (A) or correlated (B) RVs. The American Journal of Human Genetics 2015 97, 86-98DOI: (10.1016/j.ajhg.2015.05.018) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 7 Distributions of the p Values from aSPUpath and GRASS and Their Comparison in the Log10 Scale for the WTCCC CD Data Shown are aSPUpath (A) and GRASS (B) and comparison (C). The American Journal of Human Genetics 2015 97, 86-98DOI: (10.1016/j.ajhg.2015.05.018) Copyright © 2015 The American Society of Human Genetics Terms and Conditions