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DongAhn Yoo

As seen in: Nature, Science Magazine, BioRxiv, Genome Research, eLife
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Articles

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

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By David Porubsky, DongAhn Yoo, Nidhi Koundinya, Erika Souche, Philip C. Dishuck, Nicolas Dierckxsens, William Harvey, Katherine Munson, Kendra Hoekzema, Daniel Chan, Marta Santos, Senne Meynants, Ann Swillen, Jeroen Breckpot, Patrick Hasenfeld, Jan Korbel, Peter M. Lansdorp, Joris R. Vermeesch, Evan E. Eichler, Tiffany Y. Leung, Vasiliki Tsapalou
| Nature Verified
Abstract Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is mediated by high-identity polymorphic low-copy repeats (LCRA-to-D) that have been challenging to sequence characterize. We sequence-resolved 135 chromosome 22q11.2 haplotypes from diverse humans and define 63 distinct structural configurations differing in size by 11-fold for LCRA.
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Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

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By Prajna hebbar, DongAhn Yoo, Taylor D Real
| BioRxiv
Abstract NOTCH2NL (NOTCH2-N-terminus-like) genes arose from ape-specific chromosome 1 segmental duplications implicated in human brain cortical expansion, including an incomplete NOTCH2 gene. Genetic characterization of these loci and their regulation is complicated because they are embedded in large, nearly identical duplications that predispose to recurrent microdeletion syndromes.
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Epigenetic and evolutionary features of ape subterminal heterochromatin

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By DongAhn Yoo, Katherine Munson, Evan E. Eichler
| Genome Research
1,2 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA; 2Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA Corresponding author: ee3{at}uw.edu Footnotes [Supplemental material is available for this article.] Article published online before print. Article, supplemental material, and publication date are at https://www.genome.org/cgi/doi/10.1101/gr.280987.125.
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