Stephen Scherer is a genome scientist whose current research builds on his significant work in genome-wide copy number variations (CNVs) of genes and DNA – including the defining of 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 variation almost entirely accounted for by some three 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.
- Fellow of the American Association for the Advancement of Science (AAAS), 2011
- Fellow of the Royal Society of Canada, 2007
- Steacie Prize in the Natural Sciences, 2004
- CIFAR Explorer Award, 2002
- Genetics Society of Canada Scientist Award, 2002
Iafrate, A.J. et al. “Detection of large-scale variation in the human genome.” Nat. Genet. 36, no.9 (September 2004): 949–51.
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