Joseph T. Glessner, Jonathan P

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.

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.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Jordan S. Orange, MD, PhD, Joseph T

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color Richard A. Sturm, David L.

A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval Jong Wook Kim, Kyung-Won Hong, Min Jin Go, Sung Soo.

Ane Y. Schmidt, Thomas v. O. Hansen, Lise B

Genetic Landscape of Eurasia and “Admixture” in Uyghurs

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Jordan S. Orange, MD, PhD, Joseph T

Jacek Majewski The American Journal of Human Genetics

Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

Reliable Identification of Genomic Variants from RNA-Seq Data

Kathryn B. Garber, Lisa M. Vincent, John J. Alexander, Lora J. H

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color Richard A. Sturm, David L.

S. Melkorka Maggadottir, MD, Jin Li, PhD, Joseph T

Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

Volume 135, Issue 3, Pages e10 (September 2008)

The Post-GWAS Era: From Association to Function

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger Anurag Verma,

Elizabeth Theusch, Analabha Basu, Jane Gitschier

Imputation of Exome Sequence Variants into Population- Based Samples and Blood- Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing.

Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test Bennett O.V. Shum, Ilya.

Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome Fang Wang, Dan Zhao, Jie.

Microdeletions of 3q29 Confer High Risk for Schizophrenia

Kristina Allen-Brady, Peggy A. Norton, James M

EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients Carla Guarinos, Adela Castillejo, Víctor-Manuel Barberá, Lucía Pérez-Carbonell,

Dong-chuan Guo, Megan L. Grove, Siddharth K

Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS Xin He, Chris K. Fuller, Yi Song, Qingying Meng, Bin Zhang,

Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study

Structural Architecture of SNP Effects on Complex Traits

A Weighted False Discovery Rate Control Procedure Reveals Alleles at FOXA2 that Influence Fasting Glucose Levels Chao Xing, Jonathan C. Cohen, Eric Boerwinkle

Mamoru Kato, Yusuke Nakamura, Tatsuhiko Tsunoda

Berta Almoguera, PhD, Lyam Vazquez, MD, Frank Mentch, PhD, Michael E

Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome Thomas Fernandez, Thomas Morgan, Nicole Davis,

Avoiding Pitfalls in Molecular Genetic Testing

Erratum The American Journal of Human Genetics

Quan Li, Kai Wang The American Journal of Human Genetics

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Genome-wide copy number variation analysis in monozygotic twins

Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma- Associated Loci within the HLA Region at Chromosome 6p21.3 Ka-Po Tse, Wen-Hui.

A Versatile Gene-Based Test for Genome-wide Association Studies

A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression Sheron Perera, Brian Li,

A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume Christa Meisinger, Holger Prokisch, Christian Gieger, Nicole.

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

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability Feng Zhang, Pavel Seeman,

Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs Xiaoli Chen, Yiping Shen,

Hunting for Celiac Disease Genes

L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals Xiaowei Wu, Mary Sara McPeek

KIT Gene Deletions at the Intron 10−Exon 11 Boundary in GI Stromal Tumors Christopher L. Corless, Laura McGreevey, Ajia Town, Arin Schroeder, Troy Bainbridge,

Interpretation of Association Signals and Identification of Causal Variants from Genome- wide Association Studies Kai Wang, Samuel P. Dickson, Catherine.

Long Runs of Homozygosity Are Enriched for Deleterious Variation

Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease Zhi Wei, Wei Wang,

Psoriasis Genetics: The Way Forward

Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci Eilis Hannon, Mike Weedon, Nicholas Bray,

Sarah E. Medland, Dale R. Nyholt, Jodie N. Painter, Brian P

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma.

Haplotype Block Partition with Limited Resources and Applications to Human Chromosome 21 Haplotype Data Kui Zhang, Fengzhu Sun, Michael S. Waterman,

Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L

Zuoheng Wang, Mary Sara McPeek The American Journal of Human Genetics

Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26 Axel M. Hillmer, Antonia Flaquer, Sandra.

Beyond GWASs: Illuminating the Dark Road from Association to Function

Presentation transcript:

A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases Joseph T. Glessner, Jonathan P. Bradfield, Kai Wang, Nagahide Takahashi, Haitao Zhang, Patrick M. Sleiman, Frank D. Mentch, Cecilia E. Kim, Cuiping Hou, Kelly A. Thomas, Maria L. Garris, Sandra Deliard, Edward C. Frackelton, F. George Otieno, Jianhua Zhao, Rosetta M. Chiavacci, Mingyao Li, Joseph D. Buxbaum, Robert I. Berkowitz, Hakon Hakonarson, Struan F.A. Grant The American Journal of Human Genetics Volume 87, Issue 5, Pages 661-666 (November 2010) DOI: 10.1016/j.ajhg.2010.09.014 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Visualization of Representative Loci Most Frequently Harboring Deletions Deletions identified at the EDIL3, S1PR5 and FOXP2 loci. Vertical blue lines indicate the SNP probe coverage. Red rectangles delineate regions of copy number variation in individual cases for deletions. RefSeq gene boundaries are shown with vertical lines delineating exons. Database of Genomic Variants entries from other studies on a variety of platforms are shown as an additional control. The American Journal of Human Genetics 2010 87, 661-666DOI: (10.1016/j.ajhg.2010.09.014) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Visualization of Representative Loci Most Frequently Harboring Duplications Duplications identified at the KIF2B and ARL15 loci. Vertical blue lines indicate the SNP probe coverage. Green rectangles delineate regions of copy number variation in individual cases for duplications. RefSeq gene boundaries are shown with vertical lines delineating exons. Database of Genomic Variants entries from other studies on a variety of platforms are shown as an additional control. The American Journal of Human Genetics 2010 87, 661-666DOI: (10.1016/j.ajhg.2010.09.014) Copyright © 2010 The American Society of Human Genetics Terms and Conditions