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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

Hernan D Gonorazky, Sergey Naumenko, Arun K Ramani, Viswateja Nelakuditi, Pouria Mashouri, Peiqui Wang, Dennis Kao, Krish Ohri, Senthuri Viththiyapaskaran, Mark A Tarnopolsky, Katherine D Mathews, Steven A Moore, Andres N Osorio, David Villanova, Dwi U Kemaladewi, Ronald D Cohn, Michael Brudno , James J Dowling ∗∗
PMCID: PMC6507041  PMID: 31051109

(The American Journal of Human Genetics 104, 466–483; March 7, 2019)

In the originally published version of this article, the 5′ UTR variant of Family 5 was incorrectly described; the correct substitution is chr3:g.49761246G>A. Additionally, there were two instances of incorrect reference transcripts. The variant for family 8 correctly corresponds to GenBank: NM_133378.4. The variant for family 35 correctly corresponds to GenBank: NM_004006.2:c.93+1G>C. The article now appears correctly online. The authors regret these errors and any confusion that may have resulted.

Contributor Information

Michael Brudno, Email: brudno@cs.toronto.edu.

James J. Dowling, Email: james.dowling@sickkids.ca.


Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

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