The Impact of CNVs on Complex Human Traits

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Chiara Auwerx will discuss the role of individual CNVs and the total CNV burden on modulating over 50 medically relevant complex trait in the UK Biobank. Results of the study expose the pleiotropy and polygenicity of CNVs and highlight the complex and nuanced role of this mutational class at odds with the classical dichotomy between common diseases and Mendelian disorders.


  • Call CNVs from genotyping microarray data in the UK Biobank.
  • Perform CNV-GWAS between the copy number state of CNV-proxy probes and 57 medically relevant complex traits.
  • Identify 131 independent CNV-trait associations across 47 phenotypes.
  • CNVs signals colocalize with SNP-GWAS signals and Mendelian disorder loci.
  • Total CNV burden negatively impacts health, socio-economic status, and longevity.
  • Data suggest a polygenic CNV architecture for many assessed traits.

Chiara Auwerx, MS

PhD candidate

University of Lausanne

Chiara Auwerx obtained a Bachelor (2017) and Master (2019) degree in biology from the Eidgenössische Technische Hochschule (ETH) Zürich (CH). She completed her Master thesis in Prof. Coleen Murphy’s group at Princeton University (US), where she investigated the effect on short-term memory of the loss-of-function of novel Alzheimer’s disease candidate genes in C. elegans. In 2020, she started a PhD in human statistical genetics under the supervision of Profs. Zoltán Kutalik and Alexandre Reymond at the University of Lausanne (CH). She has since been investigating the role of copy-number variants in shaping complex traits and common diseases in the general population. In 2021 she was awarded the Young Investigator Award (Lodewijk Sandkuijl) for the best talk in complex disease genetics and statistical genetics at the European Society of Human Genetics Conference. 

Alexandre Reymond, PhD


Center of Integrative Genomics, University of Lausanne

Alexandre Reymond carried out his thesis in the laboratory of Dr. Viesturs Simanis at the Swiss Institute for Experimental Cancer Research (ISREC) and received his Ph.D. from the University of Lausanne in 1993. After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the Department of Genetics, Harvard Medical School in Boston, he moved to the Telethon Institute of Genetics and Medicine (TIGEM) in Milan in 1998 to lead a research group. He joined in 2000 the Department of Genetic Medicine and Development, University of Geneva Medical School. He moved to the Center for Integrative Genomics in October 2004 and became its Director in 2015. He is the Vice-President of the European Society of Human Genetics and the Chair of its Scientific Program Committee.

Zoltán Kutalik, PhD

Principal investigator

Statistical Genetics Group, University of Lausanne

Zoltán Kutalik is a statistical geneticist, associate professor at the University of Lausanne, heading the Statistical Genetics Group. His main research interest lies in developing statistical methods integrating various omics data in order to better understand the genetic architecture of complex human diseases. He is a council member of the Swiss Institute of Bioinformatics (SIB), scientific programme committee member of the ESHG, EMGM, BC2, ISCB conferences and evaluation committee member of the Swiss National Science Foundation (SNSF). Zoltan is on the advisory board of the LongITools EU project, science council member of the Health 2030 Genome Center, an editorial board member of PLoS Genetics, Human Molecular Genetics and EJHG. He won the Early Career Bioinformatician Award of the SIB, the Investigator-in-training award of the University of Lausanne and shared the Leenaards Prize. He published over 180 peer-reviewed articles (>40,000 citations, h-index >80) in international scientific journals. 

Bruce Korf, MD, PhD (Moderator)


American Journal of Human Genetics

Chief Genomics Officer, UAB Medicine 
Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics UAB


The Impact of CNVs on Complex Human Traits
05/04/2022 at 12:00 PM (EDT)  |  Recorded On: 05/04/2022
05/04/2022 at 12:00 PM (EDT)  |  Recorded On: 05/04/2022