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Publications
Genetics in Medicine
"Genetics in Medicine" is the world’s top selling medical genetics textbook. First written and published by Drs. Margaret and John Thompson in 1966, the book was adopted worldwide. Later editors from SickKids included Dr. Roderick McInnes (7th and 8th Editions 2015), Dr. Ronald D. Cohn (9th Edition 2023) and Dr. Stephen W. Scherer (9th Edition 2023).
The Diploid Genome Sequence of an Individual Human
"The Diploid Genome Sequence of an Individual Human" is a significant scientific paper published in 2007 that documented the sequencing and analysis of the first complete diploid human genome (of Dr. J. Craig Venter). The research was a collaborative effort between Celera Genomics, later the Venter Institute, and SickKids researchers who played a key role. The research team at SickKids, led by Dr. Stephen W. Scherer, contributed their expertise in genetics and genomics to annotate the sequence data and interpret the results. This landmark study showcased the technical advancements in sequencing technology and set the stage for future studies on human genetic variation, personalized medicine, and the understanding of genetic influences on health and disease. The accompanying CD-ROM in the framed paper is one of 12 originals made carrying the first genome sequence along with the signatures of the main authors. The cost of this first genome sequence was estimated to be $70 million dollars. A year later, using next generation sequencing, a team at Baylor sequenced the genome of Dr. James Watson for $2 million dollars and now it can be done for less than $1,000.
Fifteen Important Genome Sequencing Studies in Canadian Science
Celebrating the launch of the CanSeq150 Genome Sequencing Initiative.
To commemorate Canada’s 150th birthday in 2017 and to lay the foundation of research excellence for the next 150 years, CGEn and its partners embarked on the Canada 150 Sequencing Initiative (CanSeq150). The aim of CanSeq150 was to sequence 150 new genomes to support sequence-based genomics research by enabling future research in biodiversity and conservation, applications in breeding and biomedicine, as well as technology development, across Canada.
More than 100 species were selected for sequencing through the CanSeq150 program, providing a platform for biologists, ecologists, population geneticists and other scientists with in-depth knowledge and expertise in species of interest to work with genomic scientists. CanSeq150 has now joined the Canadian arm of the Earth BioGenome project, which will identify an additional 400 species important to Canadian wildlife conservation, recovery and monitoring.
Canadian Medical Association Journal
In October 2021, Drs. Gregory Costain, Ronald D. Cohn, Stephen W. Scherer and Christian R. Marshall published an article on genome sequencing as a diagnostic test. That year, 2021, marked the beginning of genome sequencing being performed as a clinical genetic test in Ontario, Canada.
