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Stephen W. Scherer Genome scientist

Stephen Scherer’s research builds on his significant work in genome-wide copy number variations (CNVs) of genes and DNA, including defining CNV as a highly abundant form of human genetic variation. Previous theory held that humans were 99.9 per cent DNA identical, with the small difference in variation almost entirely accounted for by some 3 million single nucleotide polymorphisms (SNPs) per genome. Larger genomic CNV changes involving losses or gains of thousands or millions of nucleotides encompassing one or several genes were thought to be exceptionally rare, and almost always involved in disease. Scherer’s discovery of frequent CNV events found in the genomes of all cells in every individual opened a new window for studies of natural genetic variation, evolution and disease, including autism.


Elected Fellow of the American Association for the Advancement of Science (AAAS), 2011.

Elected Fellow of the Royal Society of Canada, 2007.

Steacie Prize in the Natural Sciences, 2004.

Canadian Institute for Advanced Research Explorer Award, 2002.

Genetics Society of Canada Scientist Award, 2002.

Relevant Publications

A. John Iafrate et al, "Detection of large-scale variation in the human genome," Nat. Genet., vol. 36, no.9, pp. 949-951, Sept. 2004.



Senior Fellow Genetic Networks


Hospital for Sick ChildrenThe Centre for Applied Genomics


PhD  University of Toronto

MSc  University of Toronto

BSc (Hon) University of Waterloo



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