Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Slides:



Advertisements
Similar presentations
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.
Advertisements

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
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.
Ane Y. Schmidt, Thomas v. O. Hansen, Lise B
Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome  Benjamín Rodríguez-Santiago, Núria Malats, Nathaniel Rothman,
Michael Dannemann, Janet Kelso  The American Journal of Human Genetics 
Kendy K. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh, Lindsey R
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders  Mathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, Silvio.
Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder  Santhosh Girirajan, Megan Y. Dennis, Carl.
Diagnostic Genome Profiling in Mental Retardation
Michael H. Duyzend, Xander Nuttle, Bradley P
Transmission Disequilibrium of Small CNVs in Simplex Autism
Volume 70, Issue 5, Pages (June 2011)
Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4  Katrina A.B. Goddard, John S. Witte, Brian K.
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder  Christopher S. Poultney, Arthur P. Goldberg,
High-Resolution Genetic Maps Identify Multiple Type 2 Diabetes Loci at Regulatory Hotspots in African Americans and Europeans  Winston Lau, Toby Andrew,
Comparing Algorithms for Genotype Imputation
Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L
Laura J. Dumas, Majesta S. O’Bleness, Jonathan M. Davis, C
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.
Haplotype Estimation Using Sequencing Reads
Linkage Thresholds for Two-stage Genome Scans
Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number- Variable Region at Chromosome 4p16  Irina Balikova, Kevin Martens, Cindy Melotte,
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development 
Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders  Rui Luo, Stephan J.
Michael Dannemann, Janet Kelso  The American Journal of Human Genetics 
Volume 70, Issue 5, Pages (June 2011)
Genome-wide Association Study Identifies Four Genetic Loci Associated with Thyroid Volume and Goiter Risk  Alexander Teumer, Rajesh Rawal, Georg Homuth,
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis  Michael Ng, Dipti Thakkar, Lorraine Southam,
Microdeletions of 3q29 Confer High Risk for Schizophrenia
Kristina Allen-Brady, Peggy A. Norton, James M
Transethnic Genetic-Correlation Estimates from Summary Statistics
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project  Paul L. Auer, Alex.
Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association Studies 
A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
Laura J. Dumas, Majesta S. O’Bleness, Jonathan M. Davis, C
Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome- wide Association Studies  Buhm Han, Eleazar Eskin  The American Journal.
Dong-chuan Guo, Megan L. Grove, Siddharth K
Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study 
Christian Gilissen, Heleen H
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 
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk  Tom G. Richardson,
Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation  Janine Wagenstaller, Stephanie.
Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets  Xinli Hu, Hyun Kim, Eli Stahl, Robert Plenge,
Genotype Imputation with Millions of Reference Samples
Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome  Thomas Fernandez, Thomas Morgan, Nicole Davis,
Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent  Sharon R. Browning, Brian L. Browning  The.
Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4  Katrina A.B. Goddard, John S. Witte, Brian K.
High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization  Joris A. Veltman, Eric F.P.M.
Dan-Yu Lin, Zheng-Zheng Tang  The American Journal of Human Genetics 
Erratum The American Journal of Human Genetics
Wei Pan, Il-Youp Kwak, Peng Wei  The American Journal of Human Genetics 
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes  Stefan H. Lelieveld, Laurens Wiel,
Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs  Xiaoli Chen, Yiping Shen,
L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals  Xiaowei Wu, Mary Sara McPeek 
Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring  Mirjam S.
A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events 
Iuliana Ionita-Laza, Seunggeun Lee, Vlad Makarov, Joseph D
Annabel C. Whibley, Vincent Plagnol, Patrick S
C. E. Browne, N. R. Dennis, E. Maher, F. L. Long, J. C. Nicholson, J
Anupama Srinivasan, Diana W. Bianchi, Hui Huang, Amy J
Harold A. Nieuwboer, René Pool, Conor V. Dolan, Dorret I
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
Presentation transcript:

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients Terry Vrijenhoek, Jacobine E. Buizer-Voskamp, Inge van der Stelt, Eric Strengman, Chiara Sabatti, Ad Geurts van Kessel, Han G. Brunner, Roel A. Ophoff, Joris A. Veltman  The American Journal of Human Genetics  Volume 83, Issue 4, Pages 504-510 (October 2008) DOI: 10.1016/j.ajhg.2008.09.011 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 Four Rare CNVs in Patients with Schizophrenia (A) CNAG plots of deletions and duplications in four patients. Upper x axis: Log2 test-over-reference ratios of hybridization signals of individual SNPs (red dots) and the corresponding HMM algorithm (blue line). Lower x axis: moving average (ten SNPs) result of the individual Log2-ratios. (B) MLPA (patients 1, 2, and 4) and qPCR (patient 3) validation of all four CNVs. (C) Location of duplications and deletions in the 11 patients and the control subject in the respective genomic regions. Displayed are duplications (blue horizontal lines) and deletions (brown horizontal lines), affected genes (blue), and adjacent known variants from the Database of Genomic Variants and from studies of unaffected subjects. The American Journal of Human Genetics 2008 83, 504-510DOI: (10.1016/j.ajhg.2008.09.011) Copyright © 2008 The American Society of Human Genetics Terms and Conditions