Dara G. Torgerson, Daniel Capurso, Rasika A. Mathias, Penelope E

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

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.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations Albert M. Levin, PhD, Rasika A. Mathias, ScD, Lili.
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos Maria Pino-Yanes, PhD, Christopher R. Gignoux,
A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea  Fernando L. Mendez, Joseph C.
Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans  Rachel A. Myers, PhD, Blanca E. Himes,
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum  Li Gao, MD,
Pharmacogenetics: Implications of race and ethnicity on defining genetic profiles for personalized medicine  Victor E. Ortega, MD, Deborah A. Meyers,
Blanca E. Himes, Gary M. Hunninghake, James W. Baurley, Nicholas M
The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate- Immunity CD209/CD209L Region  Luis B. Barreiro, Etienne Patin, Olivier Neyrolles,
Sunita Sharma, MD, MPH, Xiaobo Zhou, PhD, Derek M
CYP3A Variation and the Evolution of Salt-Sensitivity Variants
Genome-wide association study of lung function phenotypes in a founder population  Tsung-Chieh Yao, MD, PhD, Gaixin Du, MS, Lide Han, PhD, Ying Sun, MS,
Strong Evidence That KIAA0319 on Chromosome 6p Is a Susceptibility Gene for Developmental Dyslexia  Natalie Cope, Denise Harold, Gary Hill, Valentina.
Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results 
Lucia Elena Alvarado Arnez, BS, Evaristo N
Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos  Maria Pino-Yanes, PhD, Christopher R.
Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans  Rachel A. Myers, PhD, Blanca E. Himes,
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 
Albert M. Levin, PhD, Rasika A
High-Resolution Genetic Maps Identify Multiple Type 2 Diabetes Loci at Regulatory Hotspots in African Americans and Europeans  Winston Lau, Toby Andrew,
Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum  Li Gao, MD,
Tuuli Lappalainen, Stephen B. Montgomery, Alexandra C
XMCPDT Does Have Correct Type I Error Rates
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.
CYP3A Variation and the Evolution of Salt-Sensitivity Variants
Maternal microchimerism protects against the development of asthma
Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility  Gabe Haller, BA, Dara G. Torgerson, PhD, Carole.
Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects  Dara.
Family-Based Association Studies for Next-Generation Sequencing
Alkes L. Price, Gregory V. Kryukov, Paul I. W. de Bakker, Shaun M
Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression 
Mamoru Kato, Yusuke Nakamura, Tatsuhiko Tsunoda 
Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium  Penelope E. Bonnen, Michael D. Story,
Christoph Lange, Nan M. Laird  The American Journal of Human Genetics 
E. Wang, Y. -C. Ding, P. Flodman, J. R. Kidd, K. K. Kidd, D. L
Role of local CpG DNA methylation in mediating the 17q21 asthma susceptibility gasdermin B (GSDMB)/ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3)
Dan-Yu Lin, Zheng-Zheng Tang  The American Journal of Human Genetics 
Erratum The American Journal of Human Genetics
Evidence for Variable Selective Pressures at MC1R
Variation in the HLA-G Promoter Region Influences Miscarriage Rates
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.
James A. Lautenberger, J. Claiborne Stephens, Stephen J
Wei Pan, Il-Youp Kwak, Peng Wei  The American Journal of Human Genetics 
Evolutionary History of the ADRB2 Gene in Humans
Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium  Christopher S. Carlson,
Michelle Daya, PhD, Kathleen C. Barnes, PhD 
L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals  Xiaowei Wu, Mary Sara McPeek 
Complex History of Admixture between Modern Humans and Neandertals
Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes
Psoriasis Genetics: The Way Forward
Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases  Xingnan Li, PhD, Elizabeth J. Ampleford,
Evidence for gene-environment interactions in a linkage study of asthma and smoking exposure  Susan Colilla, PhDa*, Dan Nicolae, PhDb, Anna Pluzhnikov,
Iuliana Ionita-Laza, Seunggeun Lee, Vlad Makarov, Joseph D
Sarah E. Medland, Dale R. Nyholt, Jodie N. Painter, Brian P
Alice S. Whittemore, Jerry Halpern 
A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea  Fernando L. Mendez, Joseph C.
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate- Immunity CD209/CD209L Region  Luis B. Barreiro, Etienne Patin, Olivier Neyrolles,
Kung-Yee Liang, Fang-Chi Hsu, Terri H. Beaty, Kathleen C. Barnes 
Presentation transcript:

Resequencing Candidate Genes Implicates Rare Variants in Asthma Susceptibility  Dara G. Torgerson, Daniel Capurso, Rasika A. Mathias, Penelope E. Graves, Ryan D. Hernandez, Terri H. Beaty, Eugene R. Bleecker, Benjamin A. Raby, Deborah A. Meyers, Kathleen C. Barnes, Scott T. Weiss, Fernando D. Martinez, Dan L. Nicolae, Carole Ober  The American Journal of Human Genetics  Volume 90, Issue 2, Pages 273-281 (February 2012) DOI: 10.1016/j.ajhg.2012.01.008 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Combined Site-Frequency Spectrum of European American and African American Cases and Controls Site-frequency spectrum of 1,225 variants identified through the resequencing of coding exons and flanking noncoding regions of nine candidate asthma-associated genes in 450 cases (108 European American and 342 African American) and 515 controls (248 European American and 267 African American). We resampled a total of 100 chromosomes in each of the European American and African American cases and controls to account for missing data and differences in sample size. Derived alleles were pooled for variants with >2 alleles; we used data from the chimpanzee to infer ancestral states. Plots for individual genes are shown in Figure S1. The American Journal of Human Genetics 2012 90, 273-281DOI: (10.1016/j.ajhg.2012.01.008) Copyright © 2012 The American Society of Human Genetics Terms and Conditions