Copy Number Variations Working Group Leadership
Work with us!
If you have questions regarding the PGC CNV workgroup or projects that are currently being conducted, please contact the workgroup chairs.
For any questions or ideas related to research dissemination (e.g., via this webpage, social media, blogs, press outlets), please contact the workgroup outreach liaison.
If you have questions about how to access summary statistics or genotype-level data, or are interested to submit a secondary analysis proposal, please contact the workgroup data access committee representative.
About Us
Our History
The genetic architecture of psychiatric disorders consists of contributions from both common variants that have individually small effects and rare variants that confer large effects on neurocognitive and psychiatric traits. Probe intensity data from SNP genotyping microarrays used in GWAS allow us to directly detect copy number variants (CNVs), including large (≥10 kb) deletions and duplications of DNA. Thus, CNV analysis of GWAS datasets enables well-powered studies of rare variants that impact genes. The CNV analysis workgroup has developed best-practices methods for CNV calling, genetic association and meta-analysis. We collaborate with the disorder groups of the PGC to carry out large-scale studies of rare variants in psychiatric disorders.
We are a diverse, inclusive and highly collaborative team of statistical geneticists, data scientists and computational biologists and that has been part of the PGC since 2013. We welcome newcomers to the PGC to attend our regular calls where we seek to stimulate collaborative research on the discovery and functional and clinical characterization of CNVs. If you want to collaborate or get involved with the workgroup contact Jonathan Sebat.
Get Involved!
Currently, we are looking for new collaborators with genotyping and depression data in order to increase our sample size for our next large-scale genome-wide meta-analyses.
More information coming soon!
Major Accomplishments
Latest Results
More information coming soon!
Publications
Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D… Sebat J. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017 Jan;49(1):27-35. PMID: 27869829 http://doi.org/10.1038/ng.3725
Bergen SE, Ploner A, Howrigan D; CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium; O'Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS. Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia. Am J Psychiatry. 2019 Jan 1;176(1):29-35. PMID: 30392412 http://doi.org/10.1176/appi.ajp.2018.17040467
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet. 2022 Sep;54(9):1284-1292. PMID: 35654974 http://doi.org/10.1038/s41588-022-01064-5
Maihofer AX, Engchuan W, Huguet G, Klein M, MacDonald JR, Shanta O, Thiruvahindrapuram B, Sebat J, Nievergelt CM. Rare copy number variation in posttraumatic stress disorder. Mol Psychiatry. 2022 Dec;27(12):5062-5069. PMID: 36131047 http://doi.org/10.1038/s41380-022-01776-4
Trost B, Thiruvahindrapuram B… Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022 Nov 10;185(23):4409-4427.e18. PMID: 36368308 http://doi.org/10.1016/j.cell.2022.10.009
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