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Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E

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Presentation on theme: "Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E"— Presentation transcript:

1 FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene- Discovery Project 
Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E. Samuels, Bridget A. Fernandez, Francois P. Bernier, Michael Brudno, Bartha Knoppers, Janet Marcadier, David Dyment, Shelin Adam, Dennis E. Bulman, Steve J.M. Jones, Denise Avard, Minh Thu Nguyen, Francois Rousseau, Christian Marshall, Richard F. Wintle, Yaoqing Shen, Stephen W. Scherer, Jan M. Friedman, Jacques L. Michaud, Kym M. Boycott  The American Journal of Human Genetics  Volume 94, Issue 6, Pages (June 2014) DOI: /j.ajhg Copyright © 2014 The Authors Terms and Conditions

2 Figure 1 A Map of Canada Depicts the Location of Participating Clinical Sites and S&T ICs Abbreviations are as follows: GQ, Genome Quebec; and S&T ICs, science and technology innovation centers. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2014 The Authors Terms and Conditions

3 Figure 2 Outcomes of the 264 Disorders Studied with Each Strategy
Strategy 1 was used for multiple unrelated individuals or families affected by the same very rare but highly recognizable clinical condition (32 disorders); strategy 2a was for consanguineous families (60 disorders); strategy 2b was for autosomal-dominant families (19 disorders); strategy 3 was for nonconsanguineous families with two or more affected siblings (62 disorders); and strategy 4 was for single affected individuals with no family history (91 disorders). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2014 The Authors Terms and Conditions


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