Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

Although each Mendelian Disorder of the Epigenetic Machinery (MDEM) has a different causative gene, there are shared disease manifestations. We hypothesize that this phenotypic convergence is a consequence of shared epigenetic alterations. To identify such shared alterations, we interrogate chromati...

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Bibliographic Details
Main Authors: Teresa Romeo Luperchio, Leandros Boukas, Li Zhang, Genay Pilarowski, Jenny Jiang, Allison Kalinousky, Kasper D Hansen, Hans T Bjornsson
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-08-01
Series:eLife
Subjects:
histone machinery
epigenetics
computational methods
IgA deficiency
Mendelian
chromatin
Online Access:https://elifesciences.org/articles/65884

Internet

https://elifesciences.org/articles/65884

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